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

4 papers

NM_000400.4

p.R636Q

c.1907G>A

Surrounding Variants

2 papers

NM_000400.4

p.R636L

c.1907G>T

1 paper

NM_000400.4

p.A635_R636insFs

c.1904_1907dup4

11 papers

NM_000400.4

p.R636W

c.1906C>T

8 papers

NM_000400.4

p.A635V

c.1904C>T

1 paper

NM_000400.4

p.K634_A635Splc

c.1903-1G>T

1 paper

NM_000400.4

p.E638fs

c.1912_1913fs

1 paper

NM_000400.4

p.K634_A635Splc

c.1903-2A>G

1 paper

NM_000400.4

p.E638delFs

c.1914delT

2 papers

NM_000400.4

p.Y639*

c.1917C>G

2 papers

NM_000400.4

p.Y639*

c.1917C>A

1 paper

NM_000400.4

p.L640M

c.1918C>A

1 paper

NM_000400.4

p.L640L

c.1920G>T