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.R112S

c.334C>A

Surrounding Variants

8 papers

NM_000400.4

p.R112C

c.334C>T

2 papers

NM_000400.4

p.R112G

c.334C>G

1 paper

NM_000400.4

p.R112L

c.335G>T

99 papers

NM_000400.4

p.R112H

c.335G>A

1 paper

NM_000400.4

p.R112R

c.336C>A

1 paper

NM_000400.4

p.S111Y

c.332C>A

1 paper

NM_000400.4

p.S111_R112del2

c.331_335del6

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.L115S

c.344T>C

1 paper

NM_000400.4

p.L115*

c.344T>A

2 papers

NM_000400.4

p.L115F

c.345G>T