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.D312D

c.936C>T

Surrounding Variants

2 papers

NM_000400.4

p.E313K

c.937G>A

2 papers

NM_000400.4

p.D312Y

c.934G>T

660 papers

NM_000400.4

p.D312N

c.934G>A

NM_001130867.2

p.D288N

c.862G>A

1 paper

NM_000400.4

p.P308_E313del0

c.924_938del15

1 paper

NM_001130867.2

p.V290delFs

c.868delC

NM_000400.4

p.V314delFs

c.940delC

1 paper

NM_000400.4

p.V314fs

c.940_941fs

NM_001130867.2

p.V290fs

c.868_869fs

1 paper

NM_000400.4

p.L315L

c.943C>T

1 paper

NM_000400.4

p.L315insFs

c.943_944insC

5 papers

NM_000400.4

p.Q316E

c.946C>G

4 papers

NM_000400.4

p.V309M

c.925G>A

1 paper

NM_000400.4

p.Q316fs

c.946_947fs

3 papers

NM_000400.4

p.P308L

c.923C>T