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

3 papers

NM_000400.4

p.H729Y

c.2185C>T

Surrounding Variants

1 paper

NM_000400.4

p.F728delFs

c.2184delG

1 paper

NM_000400.4

p.H729insFs

c.2186_2187insA

1 paper

NM_000400.4

p.R730W

c.2188C>T

4 papers

NM_000400.4

p.R730Q

c.2189G>A

1 paper

NM_000400.4

p.R730_E731Splc

c.2190+1G>C

5 papers

NM_000400.4

p.R730del1

c.2188_2189delCCG

1 paper

NM_000400.4

p.Q715_R730delFs

c.2144_2190del47

1 paper

NM_000400.4

p.P727T

c.2179C>A

4 papers

NM_000400.4

p.R730delFs

c.2189delC

1 paper

NM_000400.4

p.Q726R

c.2177A>G

2 papers

NM_000400.4

p.Q726*

c.2176C>T

1 paper

NM_000400.4

p.Q726E

c.2176C>G