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.H37Y

c.109C>T

Surrounding Variants

1 paper

NM_000400.4

p.H37D

c.109C>G

2 papers

NM_000400.4

p.H37N

c.109C>A

1 paper

NM_000400.4

p.G36del1

c.106_108delACC

1 paper

NM_000400.4

p.H37L

c.110A>T

1 paper

NM_000400.4

p.H37R

c.110A>G

1 paper

NM_000400.4

p.H37P

c.110A>C

1 paper

NM_000400.4

p.H37Q

c.111T>G

1 paper

NM_000400.4

p.H37Q

c.111T>A

1 paper

NM_000400.4

p.G36V

c.107G>T

1 paper

NM_000400.4

p.G36A

c.107G>C

1 paper

NM_000400.4

p.G36D

c.107G>A

1 paper

NM_000400.4

p.G36C

c.106G>T