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.D609N

c.1825G>A

Surrounding Variants

6 papers

NM_000400.4

p.D609G

c.1826A>G

1 paper

NM_000400.4

p.D609A

c.1826A>C

5 papers

NM_000400.4

p.D609E

c.1827C>G

5 papers

NM_000400.4

p.D609E

c.1827C>A

2 papers

NM_000400.4

p.F610fs

c.1828_1829fs

2 papers

NM_000400.4

p.D609delFs

c.1827delG

1 paper

NM_000400.4

p.I608F

c.1822A>T

1 paper

NM_000400.4

p.F610C

c.1829T>G

3 papers

NM_000400.4

p.F610Y

c.1829T>A

1 paper

NM_000400.4

p.F610fs

c.1828_1829fs

12 papers

NM_000400.4

p.G607A

c.1820G>C

1 paper

NM_000400.4

p.G607*

c.1819G>T