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

81 papers

NM_000400.4

p.L461V

c.1381C>G

Surrounding Variants

1 paper

NM_000400.4

p.L461R

c.1382T>G

1 paper

NM_000400.4

p.S462A

c.1384T>G

1 paper

NM_000400.4

p.S462P

c.1384T>C

1 paper

NM_000400.4

p.T460S

c.1378A>T

4 papers

NM_000400.4

p.T460A

c.1378A>G

1 paper

NM_000400.4

p.G459_T460Splc

c.1378-1G>T

6 papers

NM_000400.4

p.P463S

c.1387C>T

2 papers

NM_000400.4

p.P463A

c.1387C>G

3 papers

NM_000400.4

p.P463T

c.1387C>A

8 papers

NM_000400.4

p.P463L

c.1388C>T

4 papers

NM_000400.4

p.P463Q

c.1388C>A

1 paper

NM_000400.4

p.D465N

c.1393G>A