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

4 papers

NM_000400.4

p.V309M

c.925G>A

Surrounding Variants

3 papers

NM_000400.4

p.P308L

c.923C>T

1 paper

NM_000400.4

p.P308H

c.923C>A

1 paper

NM_000400.4

p.N307D

c.919A>G

1 paper

NM_000400.4

p.A306A

c.918C>T

1 paper

NM_000400.4

p.A306G

c.917C>G

1 paper

NM_000400.4

p.A306D

c.917C>A

2 papers

NM_000400.4

p.D312Y

c.934G>T

1 paper

NM_000400.4

p.A306S

c.916G>T

660 papers

NM_000400.4

p.D312N

c.934G>A

NM_001130867.2

p.D288N

c.862G>A

1 paper

NM_000400.4

p.L305L

c.915G>C

1 paper

NM_000400.4

p.D312D

c.936C>T

2 papers

NM_000400.4

p.E313K

c.937G>A