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.A617V

c.1850C>T

Surrounding Variants

1 paper

NM_000400.4

p.A617insFs

c.1849dupG

1 paper

NM_000400.4

p.A617delFs

c.1849delC

1 paper

NM_000400.4

p.A617fs

c.1849_1850fs

3 papers

NM_000400.4

p.V618I

c.1852G>A

1 paper

NM_000400.4

p.V618G

c.1853T>G

72 papers

NM_000400.4

p.R616P

c.1847G>C

8 papers

NM_000400.4

p.R616Q

c.1847G>A

37 papers

NM_000400.4

p.R616W

c.1846C>T

4 papers

NM_000400.4

p.R616G

c.1846C>G

1 paper

NM_000400.4

p.G615E

c.1844G>A

3 papers

NM_000400.4

p.G615W

c.1843G>T

1 paper

NM_000400.4

p.I619M

c.1857C>G