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.V476fs

c.1426_1427fs

Surrounding Variants

1 paper

NM_000400.4

p.T477A

c.1429A>G

9 papers

NM_000400.4

p.V476I

c.1426G>A

2 papers

NM_000400.4

p.P475L

c.1424C>T

1 paper

NM_000400.4

p.P475A

c.1423C>G

2 papers

NM_000400.4

p.H474delFs

c.1420delG

1 paper

NM_000400.4

p.A479V

c.1436C>T

1 paper

NM_000400.4

p.H474Y

c.1420C>T

2 papers

NM_000400.4

p.F473L

c.1419C>G

2 papers

NM_000400.4

p.F473L

c.1419C>A

4 papers

NM_000400.4

p.T480A

c.1438A>G

2 papers

NM_000400.4

p.F473L

c.1417T>C

1 paper

NM_000400.4

p.T480N

c.1439C>A