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.V83L

c.247G>T

Surrounding Variants

1 paper

NM_000400.4

p.V83L

c.247G>C

3 papers

NM_000400.4

p.V83M

c.247G>A

1 paper

NM_000400.4

p.V83G

c.248T>G

1 paper

NM_000400.4

p.I84S

c.251T>G

1 paper

NM_000400.4

p.I84delFs

c.250_251delAT

2 papers

NM_000400.4

p.E85*

c.253G>T

2 papers

NM_000400.4

p.E85Q

c.253G>C

1 paper

NM_000400.4

p.E85K

c.253G>A

12 papers

NM_000400.4

p.E86Q

c.256G>C

1 paper

NM_000400.4

p.E86V

c.257A>T

1 paper

NM_000400.4

p.E86D

c.258G>T

1 paper

NM_000400.4

p.E86D

c.258G>C