Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Gln726Ter (p.Q726*)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg683Trp (p.R683W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg616Trp (p.R616W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Ser541Arg (p.S541R) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Leu485Pro (p.L485P) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Leu461Val (p.L461V) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg112His (p.R112H) ( ENST00000391944.8, ENST00000485403.6, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Gln726Ter (p.Q726*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg683Trp (p.R683W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg616Trp (p.R616W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Ser541Arg (p.S541R) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Leu485Pro (p.L485P) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Leu461Val (p.L461V) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg112His (p.R112H) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 ) - Associated Disease
- Xeroderma Pigmentosum, Complementation Group D
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.565428837441606
- Year of publication
- NA
Drugs