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.Y467C

c.1400A>G

Surrounding Variants

1 paper

NM_000400.4

p.P468S

c.1402C>T

1 paper

NM_000400.4

p.I466M

c.1398C>G

1 paper

NM_000400.4

p.I466S

c.1397T>G

1 paper

NM_000400.4

p.I466T

c.1397T>C

1 paper

NM_000400.4

p.I466delFs

c.1396delT

1 paper

NM_000400.4

p.P468L

c.1403C>T

2 papers

NM_000400.4

p.P468H

c.1403C>A

1 paper

NM_000400.4

p.D465N

c.1393G>A

8 papers

NM_000400.4

p.P463L

c.1388C>T

4 papers

NM_000400.4

p.P463Q

c.1388C>A

6 papers

NM_000400.4

p.P463S

c.1387C>T

2 papers

NM_000400.4

p.P463A

c.1387C>G