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.M483fs

c.1447_1448fs

Surrounding Variants

2 papers

NM_000400.4

p.T482_M483del1

c.1445_1447delTGG

1 paper

NM_000400.4

p.M483I

c.1449G>T

1 paper

NM_000400.4

p.M483I

c.1449G>C

1 paper

NM_000400.4

p.M483I

c.1449G>A

1 paper

NM_000400.4

p.T484fs

c.1450_1451fs

11 papers

NM_000400.4

p.T484A

c.1450A>G

22 papers

NM_000400.4

p.T484M

c.1451C>T

2 papers

NM_000400.4

p.T484R

c.1451C>G

1 paper

NM_000400.4

p.T484K

c.1451C>A

1 paper

NM_000400.4

p.T484_L485insFs

c.1452_1453insG

1 paper

NM_000400.4

p.T484del1

c.1450_1451delCGT

13 papers

NM_000400.4

p.L485P

c.1454T>C