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

3 papers

NM_000400.4

p.S222F

c.665C>T

Surrounding Variants

1 paper

NM_000400.4

p.S222Y

c.665C>A

3 papers

NM_000400.4

p.D219_V221delFs

c.657_661del5

1 paper

NM_000400.4

p.V221M

c.661G>A

1 paper

NM_000400.4

p.E224insFs

c.670_671insT

1 paper

NM_000400.4

p.E224K

c.670G>A

1 paper

NM_000400.4

p.L220L

c.658C>T

2 papers

NM_000400.4

p.L220V

c.658C>G

1 paper

NM_000400.4

p.L225L

c.673C>T

1 paper

NM_000400.4

p.L225V

c.673C>G

1 paper

NM_000400.4

p.K223_E224delFs

c.668_671del4

1 paper

NM_000400.4

p.D219Y

c.655G>T

3 papers

NM_000400.4

p.L225L

c.675G>C