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.Q698R

c.2093A>G

Surrounding Variants

8 papers

NM_000400.4

p.Q698*

c.2092C>T

1 paper

NM_000400.4

p.Q698E

c.2092C>G

1 paper

NM_000400.4

p.E699K

c.2095G>A

1 paper

NM_000400.4

p.E699G

c.2096A>G

1 paper

NM_000400.4

p.W696C

c.2088G>T

1 paper

NM_000400.4

p.W696C

c.2088G>C

1 paper

NM_000400.4

p.W696*

c.2088G>A

1 paper

NM_000400.4

p.W696*

c.2087G>A

1 paper

NM_000400.4

p.W696R

c.2086T>C

1 paper

NM_000400.4

p.W696R

c.2086T>A

1 paper

NM_000400.4

p.L701F

c.2101C>T

3 papers

NM_000400.4

p.L701V

c.2101C>G