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.E606delFs

c.1816delC

Surrounding Variants

7 papers

NM_000400.4

p.E606G

c.1817A>G

1 paper

NM_000400.4

p.E606A

c.1817A>C

1 paper

NM_000400.4

p.E606fs

c.1816_1817fs

18 papers

NM_000400.4

p.E606Q

c.1816G>C

5 papers

NM_000400.4

p.E606K

c.1816G>A

1 paper

NM_000400.4

p.G607*

c.1819G>T

1 paper

NM_000400.4

p.G607R

c.1819G>C

1 paper

NM_000400.4

p.G607R

c.1819G>A

1 paper

NM_000400.4

p.S605S

c.1815C>T

12 papers

NM_000400.4

p.G607A

c.1820G>C

1 paper

NM_000400.4

p.I608F

c.1822A>T

1 paper

NM_000400.4

p.V604G

c.1811T>G