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.R258G

c.772C>G

Surrounding Variants

1 paper

NM_000400.4

p.R258fs

c.772_773fs

3 papers

NM_000400.4

p.R258W

c.772C>T

2 papers

NM_000400.4

p.R258L

c.773G>T

2 papers

NM_000400.4

p.R258Q

c.773G>A

1 paper

NM_000400.4

p.D257insFs

c.770_771ins5

1 paper

NM_000400.4

p.C259F

c.776G>T

37 papers

NM_000400.4

p.C259Y

c.776G>A

2 papers

NM_000400.4

p.L256F

c.766C>T

1 paper

NM_000400.4

p.T255S

c.764C>G

1 paper

NM_000400.4

p.T255S

c.763A>T

1 paper

NM_000400.4

p.T255A

c.763A>G

1 paper

NM_000400.4

p.R254R

c.762G>T