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.K274R

c.821A>G

Surrounding Variants

4 papers

NM_000400.4

p.K274*

c.820A>T

1 paper

NM_000400.4

p.K274E

c.820A>G

1 paper

NM_000400.4

p.E275Q

c.823G>C

2 papers

NM_000400.4

p.I273I

c.819C>T

1 paper

NM_000400.4

p.R272S

c.816G>T

1 paper

NM_000400.4

p.R272S

c.816G>C

1 paper

NM_000400.4

p.R272Splc

c.816-1G>T

1 paper

NM_000400.4

p.R272K

c.815G>A

4 papers

NM_000400.4

p.R272Splc

c.816-2A>G

1 paper

NM_000400.4

p.D277H

c.829G>C

1 paper

NM_000400.4

p.D277N

c.829G>A

1 paper

NM_000400.4

p.D277E

c.831C>G