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.A297V

c.890C>T

Surrounding Variants

1 paper

NM_000400.4

p.S296S

c.888C>T

1 paper

NM_000400.4

p.A298G

c.893C>G

3 papers

NM_000400.4

p.R299W

c.895C>T

1 paper

NM_000400.4

p.R299Q

c.896G>A

1 paper

NM_000400.4

p.A295delFs

c.883delC

1 paper

NM_000400.4

p.E300*

c.898G>T

1 paper

NM_000400.4

p.E300K

c.898G>A

2 papers

NM_000400.4

p.E294K

c.880G>A

1 paper

NM_000400.4

p.R293L

c.878G>T

1 paper

NM_000400.4

p.R293Q

c.878G>A

3 papers

NM_000400.4

p.T301M

c.902C>T

1 paper

NM_000400.4

p.T301R

c.902C>G