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

2 papers

NM_000400.4

p.F654L

c.1960T>C

Surrounding Variants

1 paper

NM_000400.4

p.T653I

c.1958C>T

1 paper

NM_000400.4

p.F654L

c.1962C>G

1 paper

NM_000400.4

p.F654L

c.1962C>A

2 papers

NM_000400.4

p.D655Y

c.1963G>T

1 paper

NM_000400.4

p.A656V

c.1967C>T

1 paper

NM_000400.4

p.A656D

c.1967C>A

1 paper

NM_000400.4

p.F651V

c.1951T>G

1 paper

NM_000400.4

p.D650Y

c.1948G>T

1 paper

NM_000400.4

p.D650N

c.1948G>A

38 papers

NM_000400.4

p.R658C

c.1972C>T

5 papers

NM_000400.4

p.R658G

c.1972C>G

27 papers

NM_000400.4

p.R658H

c.1973G>A