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.K718*

c.2152A>T

Surrounding Variants

47 papers

NM_000400.4

p.A717G

c.2150C>G

1 paper

NM_000400.4

p.A717S

c.2149G>T

1 paper

NM_000400.4

p.A717P

c.2149G>C

1 paper

NM_000400.4

p.Y719F

c.2156A>T

1 paper

NM_000400.4

p.Y719C

c.2156A>G

1 paper

NM_000400.4

p.F720L

c.2158T>C

1 paper

NM_000400.4

p.F720L

c.2160C>G

1 paper

NM_000400.4

p.F720L

c.2160C>A

4 papers

NM_000400.4

p.Q715*

c.2143C>T

139 papers

NM_000400.4

p.R722W

c.2164C>T

1 paper

NM_000400.4

p.R722G

c.2164C>G

3 papers

NM_000400.4

p.R722L

c.2165G>T