Varaico: Literature-Extracted Genetic Variants

ERCC2

2,375 papers

RefSeq Summary

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral membe...

Pfam Domains

DEAD_2aa 72–256UCSCDEAD_2

HBBaa 269–413UCSCHelical and beta-bridge domain

Helicase_C_2aa 524–700UCSCHelicase C-terminal domain

Gene Aliases

HGNC Name

ERCC excision repair 2, TFIIH core complex helicase subunit

HGNC Previous Symbol

XPD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000400.4

p.G602A

c.1805G>C

Surrounding Variants

59 papers

NM_000400.4

p.G602D

c.1805G>A

1 paper

NM_000400.4

p.G602R

c.1804G>C

5 papers

NM_000400.4

p.K603fs

c.1807_1808fs

26 papers

NM_000400.4

p.R601L

c.1802G>T

12 papers

NM_000400.4

p.R601Q

c.1802G>A

3 papers

NM_000400.4

p.K603T

c.1808A>C

13 papers

NM_000400.4

p.R601W

c.1801C>T

1 paper

NM_000400.4

p.R601G

c.1801C>G

1 paper

NM_000400.4

p.K603fs

c.1807_1808fs

4 papers

NM_000400.4

p.K603delFs

c.1808_1809delTT

1 paper

NM_000400.4

p.V604G

c.1811T>G

1 paper

NM_000400.4

p.S598_V599insFs

c.1793_1796dup4