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.R669K

c.2006G>A

Surrounding Variants

3 papers

NM_000400.4

p.R669insFs

c.2006_2007insA

3 papers

NM_000400.4

p.R669delFs

c.2005delT

1 paper

NM_000400.4

p.R669S

c.2007G>T

5 papers

NM_000400.4

p.R669fs

c.2005_2006fs

1 paper

NM_000400.4

p.R669S

c.2007G>C

2 papers

NM_000400.4

p.R669delFs

c.2005_2006delCT

3 papers

NM_000400.4

p.R669fs

c.2005_2006fs

1 paper

NM_000400.4

p.I668delFs

c.2004delG

1 paper

NM_000400.4

p.G670_K671insT

c.2008_2012ins3

3 papers

NM_000400.4

p.G670fs

c.2008_2009fs

1 paper

NM_000400.4

p.G670D

c.2009G>A

5 papers

NM_000400.4

p.G670delFs

c.2009delC