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

2 papers

NM_000400.4

p.S51A

c.151T>G

Surrounding Variants

1 paper

NM_000400.4

p.S51P

c.151T>C

1 paper

NM_000400.4

p.S51T

c.151T>A

8 papers

NM_000400.4

p.S51F

c.152C>T

1 paper

NM_000400.4

p.S51C

c.152C>G

1 paper

NM_000400.4

p.S51Y

c.152C>A

1 paper

NM_000400.4

p.V50G

c.149T>G

1 paper

NM_000400.4

p.V50A

c.149T>C

1 paper

NM_000400.4

p.V50E

c.149T>A

1 paper

NM_000400.4

p.V50L

c.148G>T

1 paper

NM_000400.4

p.V50L

c.148G>C

1 paper

NM_000400.4

p.V50I

c.148G>A

1 paper

NM_000400.4

p.L52V

c.154C>G