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.Q733*

c.2197C>T

Surrounding Variants

1 paper

NM_000400.4

p.Q733fs

c.2197_2198fs

4 papers

NM_000400.4

p.D732G

c.2195A>G

2 papers

NM_000400.4

p.D732N

c.2194G>A

1 paper

NM_000400.4

p.E731D

c.2193G>T

1 paper

NM_000400.4

p.E731fs

c.2191_2192fs

1 paper

NM_000400.4

p.E731D

c.2193G>C

1 paper

NM_000400.4

p.E731*

c.2191G>T

1 paper

NM_000400.4

p.E731Q

c.2191G>C

1 paper

NM_000400.4

p.E731K

c.2191G>A

6 papers

NM_000400.4

p.E731fs

c.2191_2192fs

2 papers

NM_000400.4

p.R730_E731Splc

c.2191-1G>A

2 papers

NM_000400.4

p.S737P

c.2209T>C