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

2 papers

NM_000400.4

p.Y614N

c.1840T>A

Surrounding Variants

1 paper

NM_000400.4

p.H613H

c.1839C>T

1 paper

NM_000400.4

p.Y614*

c.1842C>G

1 paper

NM_000400.4

p.Y614*

c.1842C>A

3 papers

NM_000400.4

p.H613L

c.1838A>T

2 papers

NM_000400.4

p.H613R

c.1838A>G

3 papers

NM_000400.4

p.G615W

c.1843G>T

1 paper

NM_000400.4

p.H613Y

c.1837C>T

1 paper

NM_000400.4

p.G615E

c.1844G>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.V611V

c.1833G>T

72 papers

NM_000400.4

p.R616P

c.1847G>C