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.H659R

c.1976A>G

Surrounding Variants

10 papers

NM_000400.4

p.H659Y

c.1975C>T

1 paper

NM_000400.4

p.H659Q

c.1977C>G

1 paper

NM_000400.4

p.H659Q

c.1977C>A

27 papers

NM_000400.4

p.R658H

c.1973G>A

2 papers

NM_000400.4

p.A660V

c.1979C>T

1 paper

NM_000400.4

p.A660G

c.1979C>G

38 papers

NM_000400.4

p.R658C

c.1972C>T

5 papers

NM_000400.4

p.R658G

c.1972C>G

1 paper

NM_000400.4

p.A661D

c.1982C>A

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