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

3 papers

NM_000400.4

p.K751*

c.2251A>T

Surrounding Variants

5 papers

NM_000400.4

p.K751E

c.2251A>G

1083 papers

NM_000400.4

p.K751Q

c.2251A>C

1 paper

NM_000400.4

p.E745_L750del0

c.2235_2249del15

1 paper

NM_000400.4

p.K751N

c.2253G>T

1 paper

NM_000400.4

p.K751N

c.2253G>C

1 paper

NM_000400.4

p.R752S

c.2256G>T

1 paper

NM_000400.4

p.R752S

c.2256G>C

3 papers

NM_000400.4

p.T749M

c.2246C>T

2 papers

NM_000400.4

p.I753L

c.2257A>T

2 papers

NM_000400.4

p.I753L

c.2257A>C

1 paper

NM_000400.4

p.E748del1

c.2242_2243delCTC

1 paper

NM_000400.4

p.E747_I753del0

c.2240_2257del18