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.T301R

c.902C>G

Surrounding Variants

3 papers

NM_000400.4

p.T301M

c.902C>T

1 paper

NM_000400.4

p.E300*

c.898G>T

1 paper

NM_000400.4

p.E300K

c.898G>A

1 paper

NM_000400.4

p.D302D

c.906C>T

1 paper

NM_000400.4

p.A303S

c.907G>T

4 papers

NM_000400.4

p.A303T

c.907G>A

1 paper

NM_000400.4

p.R299Q

c.896G>A

3 papers

NM_000400.4

p.R299W

c.895C>T

1 paper

NM_000400.4

p.A298G

c.893C>G

1 paper

NM_000400.4

p.H304P

c.911A>C

1 paper

NM_000400.4

p.A297V

c.890C>T

1 paper

NM_000400.4

p.L305L

c.915G>C