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.M677V

c.2029A>G

Surrounding Variants

2 papers

NM_000400.4

p.M677T

c.2030T>C

1 paper

NM_000400.4

p.L676L

c.2028C>T

3 papers

NM_000400.4

p.M677I

c.2031G>T

3 papers

NM_000400.4

p.M677I

c.2031G>C

3 papers

NM_000400.4

p.M677I

c.2031G>A

1 paper

NM_000400.4

p.V678L

c.2032G>C

1 paper

NM_000400.4

p.L676fs

c.2026_2027fs

3 papers

NM_000400.4

p.G675fs

c.2023_2024fs

2 papers

NM_000400.4

p.G675V

c.2024G>T

1 paper

NM_000400.4

p.G675D

c.2024G>A

1 paper

NM_000400.4

p.F679L

c.2035T>C

6 papers

NM_000400.4

p.G675C

c.2023G>T