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.K216M

c.647A>T

Surrounding Variants

1 paper

NM_000400.4

p.K216N

c.648G>T

1 paper

NM_000400.4

p.K216N

c.648G>C

1 paper

NM_000400.4

p.K216_I217delFs

c.648_649delTC

2 papers

NM_000400.4

p.P215L

c.644C>T

5 papers

NM_000400.4

p.P215S

c.643C>T

1 paper

NM_000400.4

p.P215A

c.643C>G

1 paper

NM_000400.4

p.D214D

c.642C>T

1 paper

NM_000400.4

p.A218V

c.653C>T

1 paper

NM_000400.4

p.D214G

c.641A>G

1 paper

NM_000400.4

p.D219Y

c.655G>T

3 papers

NM_000400.4

p.D219N

c.655G>A

1 paper

NM_000400.4

p.L213P

c.638T>C