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.D245D

c.735C>T

Surrounding Variants

1 paper

NM_000400.4

p.D245V

c.734A>T

6 papers

NM_000400.4

p.D245N

c.733G>A

14 papers

NM_000400.4

p.S246F

c.737C>T

1 paper

NM_000400.4

p.S246C

c.737C>G

11 papers

NM_000400.4

p.S246Y

c.737C>A

2 papers

NM_000400.4

p.S246S

c.738C>T

2 papers

NM_000400.4

p.I244M

c.732C>G

1 paper

NM_000400.4

p.M247V

c.739A>G

1 paper

NM_000400.4

p.S246delFs

c.738delG

3 papers

NM_000400.4

p.M247T

c.740T>C

1 paper

NM_000400.4

p.I244V

c.730A>G

1 paper

NM_000400.4

p.I244L

c.730A>C