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.R227S

c.679C>A

Surrounding Variants

3 papers

NM_000400.4

p.R227C

c.679C>T

2 papers

NM_000400.4

p.R227H

c.680G>A

1 paper

NM_000400.4

p.A226A

c.678C>T

12 papers

NM_000400.4

p.A226V

c.677C>T

1 paper

NM_000400.4

p.A226S

c.676G>T

2 papers

NM_000400.4

p.A226T

c.676G>A

3 papers

NM_000400.4

p.L225L

c.675G>C

2 papers

NM_000400.4

p.K228R

c.683A>G

1 paper

NM_000400.4

p.L225L

c.673C>T

1 paper

NM_000400.4

p.L225V

c.673C>G

1 paper

NM_000400.4

p.K223_E224delFs

c.668_671del4

2 papers

NM_000400.4

p.A229V

c.686C>T