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

4 papers

NM_000400.4

p.Q645*

c.1933C>T

Surrounding Variants

1 paper

NM_000400.4

p.Q645fs

c.1933_1934fs

1 paper

NM_000400.4

p.F644L

c.1932C>G

1 paper

NM_000400.4

p.F644L

c.1932C>A

2 papers

NM_000400.4

p.Q645fs

c.1933_1934fs

2 papers

NM_000400.4

p.Q645delFs

c.1933_1934delTG

1 paper

NM_000400.4

p.F644L

c.1930T>C

4 papers

NM_000400.4

p.R647C

c.1939C>T

2 papers

NM_000400.4

p.Q643*

c.1927C>T

1 paper

NM_000400.4

p.R647L

c.1940G>T

2 papers

NM_000400.4

p.R647H

c.1940G>A

1 paper

NM_000400.4

p.E648D

c.1944G>T

1 paper

NM_000400.4

p.R641L

c.1922G>T