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.R280C

c.838C>T

Surrounding Variants

35 papers

NM_000400.4

p.R280H

c.839G>A

1 paper

NM_000400.4

p.Q279L

c.836A>T

4 papers

NM_000400.4

p.R282W

c.844C>T

1 paper

NM_000400.4

p.R282G

c.844C>G

1 paper

NM_000400.4

p.L281insFs

c.842_843ins5

2 papers

NM_000400.4

p.R282Q

c.845G>A

1 paper

NM_000400.4

p.D277E

c.831C>G

1 paper

NM_000400.4

p.D277E

c.831C>A

1 paper

NM_000400.4

p.D277H

c.829G>C

1 paper

NM_000400.4

p.D277N

c.829G>A

1 paper

NM_000400.4

p.D283V

c.848A>T

1 paper

NM_000400.4

p.D283G

c.848A>G