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

6 papers

NM_000400.4

p.R287H

c.860G>A

Surrounding Variants

1 paper

NM_000400.4

p.R287C

c.859C>T

1 paper

NM_000400.4

p.R282_L288del0

c.845_862del18

4 papers

NM_000400.4

p.R286W

c.856C>T

1 paper

NM_000400.4

p.V289L

c.865G>C

1 paper

NM_000400.4

p.E290Q

c.868G>C

1 paper

NM_000400.4

p.E284E

c.852G>A

1 paper

NM_000400.4

p.E290delFs

c.868delC

4 papers

NM_000400.4

p.E290E

c.870G>A

1 paper

NM_000400.4

p.D283E

c.849C>A

1 paper

NM_000400.4

p.G291A

c.872G>C

1 paper

NM_000400.4

p.D283V

c.848A>T

1 paper

NM_000400.4

p.D283G

c.848A>G