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.Y625H

c.1873T>C

Surrounding Variants

2 papers

NM_000400.4

p.P624L

c.1871C>T

3 papers

NM_000400.4

p.V626I

c.1876G>A

2 papers

NM_000400.4

p.P624S

c.1870C>T

4 papers

NM_000400.4

p.V623fs

c.1867_1868fs

11 papers

NM_000400.4

p.V623insFs

c.1867dupG

2 papers

NM_000400.4

p.V623I

c.1867G>A

4 papers

NM_000400.4

p.V623fs

c.1867_1868fs

1 paper

NM_000400.4

p.G622G

c.1866C>T

1 paper

NM_000400.4

p.G622_V623insFs

c.1866_1867insG

1 paper

NM_000400.4

p.G622fs

c.1864_1865fs

1 paper

NM_000400.4

p.G622delFs

c.1865delC

1 paper

NM_000400.4

p.Y627S

c.1880A>C