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.D234E

c.702C>A

Surrounding Variants

2 papers

NM_000400.4

p.D234E

c.702C>G

3 papers

NM_000400.4

p.E235K

c.703G>A

1 paper

NM_000400.4

p.D234Y

c.700G>T

35 papers

NM_000400.4

p.D234N

c.700G>A

2 papers

NM_000400.4

p.E235D

c.705G>T

2 papers

NM_000400.4

p.E235D

c.705G>C

1 paper

NM_000400.4

p.A236P

c.706G>C

1 paper

NM_000400.4

p.A236V

c.707C>T

2 papers

NM_000400.4

p.V232F

c.694G>T

2 papers

NM_000400.4

p.H237H

c.711C>T

3 papers

NM_000400.4

p.H237Q

c.711C>G

3 papers

NM_000400.4

p.H237Q

c.711C>A