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.R293W

c.877C>T

Surrounding Variants

1 paper

NM_000400.4

p.R293L

c.878G>T

1 paper

NM_000400.4

p.R293Q

c.878G>A

1 paper

NM_000400.4

p.L292P

c.875T>C

2 papers

NM_000400.4

p.E294K

c.880G>A

2 papers

NM_000400.4

p.L292V

c.874C>G

1 paper

NM_000400.4

p.G291A

c.872G>C

4 papers

NM_000400.4

p.E290E

c.870G>A

1 paper

NM_000400.4

p.A295delFs

c.883delC

1 paper

NM_000400.4

p.E290delFs

c.868delC

1 paper

NM_000400.4

p.E290Q

c.868G>C

1 paper

NM_000400.4

p.S296S

c.888C>T

1 paper

NM_000400.4

p.V289L

c.865G>C