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.F684L

c.2050T>C

Surrounding Variants

1 paper

NM_000400.4

p.R683fs

c.2047_2048fs

1 paper

NM_000400.4

p.F684L

c.2052T>G

1 paper

NM_000400.4

p.F684L

c.2052T>A

1 paper

NM_000400.4

p.R683P

c.2048G>C

47 papers

NM_000400.4

p.R683Q

c.2048G>A

124 papers

NM_000400.4

p.R683W

c.2047C>T

2 papers

NM_000400.4

p.A685V

c.2054C>T

1 paper

NM_000400.4

p.A685G

c.2054C>G

3 papers

NM_000400.4

p.R686C

c.2056C>T

2 papers

NM_000400.4

p.R686P

c.2057G>C

4 papers

NM_000400.4

p.R686H

c.2057G>A

1 paper

NM_000400.4

p.G687R

c.2059G>C