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.G665S

c.1993G>A

Surrounding Variants

5 papers

NM_000400.4

p.G665C

c.1993G>T

2 papers

NM_000400.4

p.G665R

c.1993G>C

8 papers

NM_000400.4

p.G665A

c.1994G>C

1 paper

NM_000400.4

p.G665D

c.1994G>A

26 papers

NM_000400.4

p.R666W

c.1996C>T

5 papers

NM_000400.4

p.R666Q

c.1997G>A

13 papers

NM_000400.4

p.C663R

c.1987T>C

3 papers

NM_000400.4

p.Q662H

c.1986G>T

2 papers

NM_000400.4

p.Q662H

c.1986G>C

9 papers

NM_000400.4

p.Q662*

c.1984C>T

1 paper

NM_000400.4

p.Q662K

c.1984C>A

3 papers

NM_000400.4

p.M657_A661del5

c.1969_1982del15