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.T265N

c.794C>A

Surrounding Variants

1 paper

NM_000400.4

p.L266L

c.796C>T

1 paper

NM_000400.4

p.E264Q

c.790G>C

1 paper

NM_000400.4

p.Q267*

c.799C>T

1 paper

NM_000400.4

p.L263M

c.787C>A

1 paper

NM_000400.4

p.N262S

c.785A>G

1 paper

NM_000400.4

p.K268T

c.803A>C

2 papers

NM_000400.4

p.T269M

c.806C>T

2 papers

NM_000400.4

p.V270L

c.808G>T

1 paper

NM_000400.4

p.V270M

c.808G>A

1 paper

NM_000400.4

p.V270A

c.809T>C

1 paper

NM_000400.4

p.C259F

c.776G>T

37 papers

NM_000400.4

p.C259Y

c.776G>A