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.G106R

c.316G>A

Surrounding Variants

1 paper

NM_000400.4

p.G106R

c.316G>C

1 paper

NM_000400.4

p.L105P

c.314T>C

1 paper

NM_000400.4

p.G106G

c.318A>T

1 paper

NM_000400.4

p.L107R

c.320T>G

1 paper

NM_000400.4

p.F104C

c.311T>G

1 paper

NM_000400.4

p.L107_A108insFs

c.321_322insAA

3 papers

NM_000400.4

p.P103L

c.308C>T

1 paper

NM_000400.4

p.P103Q

c.308C>A

1 paper

NM_000400.4

p.L109L

c.325C>T

1 paper

NM_000400.4

p.G106_A108del3

c.316_323del9

1 paper

NM_000400.4

p.L102M

c.304C>A

1 paper

NM_000400.4

p.K101M

c.302A>T