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.L708Q

c.2123T>A

Surrounding Variants

3 papers

NM_000400.4

p.T709P

c.2125A>C

5 papers

NM_000400.4

p.V710M

c.2128G>A

5 papers

NM_000400.4

p.L706F

c.2116C>T

1 paper

NM_000400.4

p.D711Y

c.2131G>T

1 paper

NM_000400.4

p.D711N

c.2131G>A

4 papers

NM_000400.4

p.N705S

c.2114A>G

9 papers

NM_000400.4

p.D711D

c.2133C>T

1 paper

NM_000400.4

p.N705D

c.2113A>G

2 papers

NM_000400.4

p.E712K

c.2134G>A

1 paper

NM_000400.4

p.A704V

c.2111C>T

1 paper

NM_000400.4

p.E712D

c.2136G>T

1 paper

NM_000400.4

p.E712D

c.2136G>C