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.G45V

c.134G>T

Surrounding Variants

1 paper

NM_000400.4

p.G45A

c.134G>C

1 paper

NM_000400.4

p.G45D

c.134G>A

1 paper

NM_000400.4

p.G45C

c.133G>T

1 paper

NM_000400.4

p.G45R

c.133G>C

1 paper

NM_000400.4

p.G45S

c.133G>A

4 papers

NM_000400.4

p.T46S

c.136A>T

2 papers

NM_000400.4

p.T46A

c.136A>G

1 paper

NM_000400.4

p.T46P

c.136A>C

17 papers

NM_000400.4

p.S44L

c.131C>T

5 papers

NM_000400.4

p.T46I

c.137C>T

4 papers

NM_000400.4

p.T46S

c.137C>G

4 papers

NM_000400.4

p.S44*

c.131C>G