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

3 papers

NM_000400.4

p.R631H

c.1892G>A

Surrounding Variants

1 paper

NM_000400.4

p.R631L

c.1892G>T

12 papers

NM_000400.4

p.R631C

c.1891C>T

1 paper

NM_000400.4

p.S630I

c.1889G>T

1 paper

NM_000400.4

p.I632I

c.1896T>C

1 paper

NM_000400.4

p.Q629H

c.1887G>T

1 paper

NM_000400.4

p.Q629H

c.1887G>C

1 paper

NM_000400.4

p.L633F

c.1897C>T

2 papers

NM_000400.4

p.L633V

c.1897C>G

2 papers

NM_000400.4

p.Q629*

c.1885C>T

1 paper

NM_000400.4

p.T628T

c.1884A>G

1 paper

NM_000400.4

p.K634Q

c.1900A>C

1 paper

NM_000400.4

p.T628I

c.1883C>T