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.A594V

c.1781C>T

Surrounding Variants

1 paper

NM_000400.4

p.A594D

c.1781C>A

13 papers

NM_000400.4

p.A594P

c.1780G>C

1 paper

NM_000400.4

p.A594T

c.1780G>A

4 papers

NM_000400.4

p.G591_A594del4

c.1771_1781del12

4 papers

NM_000400.4

p.I595S

c.1784T>G

6 papers

NM_000400.4

p.G593R

c.1777G>C

6 papers

NM_000400.4

p.G593R

c.1777G>A

1 paper

NM_000400.4

p.R592L

c.1775G>T

18 papers

NM_000400.4

p.R592P

c.1775G>C

9 papers

NM_000400.4

p.R592H

c.1775G>A

3 papers

NM_000400.4

p.R592C

c.1774C>T

1 paper

NM_000400.4

p.L597R

c.1790T>G