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

8 papers

NM_000400.4

p.Y209C

c.626A>G

Surrounding Variants

1 paper

NM_000400.4

p.Y209insFs

c.625_626ins8

1 paper

NM_000400.4

p.S208I

c.623G>T

2 papers

NM_000400.4

p.S208N

c.623G>A

2 papers

NM_000400.4

p.H210Q

c.630C>G

2 papers

NM_000400.4

p.H210Q

c.630C>A

1 paper

NM_000400.4

p.S208C

c.622A>T

1 paper

NM_000400.4

p.Y211C

c.632A>G

1 paper

NM_000400.4

p.Y207H

c.619T>C

1 paper

NM_000400.4

p.Y211Y

c.633C>T

2 papers

NM_000400.4

p.Y211*

c.633C>G

2 papers

NM_000400.4

p.Y211*

c.633C>A

1 paper

NM_000400.4

p.L213_D214insT

c.637_641ins3