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.M57I

c.171G>C

Surrounding Variants

4 papers

NM_000400.4

p.A58S

c.172G>T

2 papers

NM_000400.4

p.M57V

c.169A>G

1 paper

NM_000400.4

p.I56M

c.168C>G

1 paper

NM_000400.4

p.I56S

c.167T>G

1 paper

NM_000400.4

p.Y59H

c.175T>C

1 paper

NM_000400.4

p.I56N

c.167T>A

1 paper

NM_000400.4

p.Y59C

c.176A>G

1 paper

NM_000400.4

p.L55delFs

c.165delC

1 paper

NM_000400.4

p.L55L

c.165G>A

1 paper

NM_000400.4

p.L55delFs

c.164delA

1 paper

NM_000400.4

p.L53_Y59del0

c.159_176del18

1 paper

NM_000400.4

p.L55Q

c.164T>A