Varaico: Literature-Extracted Genetic Variants

ERCC3

594 papers

RefSeq Summary

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in...

Pfam Domains

Helicase_C_3aa 76–203UCSCHelicase conserved C-terminal domain

ResIIIaa 313–472UCSCType III restriction enzyme, res subunit

ERCC3_RAD25_Caa 496–743UCSCERCC3/RAD25/XPB C-terminal helicase

Gene Aliases

HGNC Name

ERCC excision repair 3, TFIIH core complex helicase subunit

HGNC Alias Symbols

XPB; BTF2; RAD25; Ssl2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000122.2

p.E263_E264del2

c.787_791del6

Surrounding Variants

9 papers

NM_000122.2

p.E264del1

c.790_791delCTC

1 paper

NM_000122.2

p.E264D

c.792G>T

1 paper

NM_000122.2

p.E264D

c.792G>C

9 papers

NM_000122.2

p.E263_E264del1

c.789_791delTCT

2 papers

NM_000122.2

p.E262_E264del0

c.786_791del6

1 paper

NM_000122.2

p.T265K

c.794C>A

1 paper

NM_000122.2

p.T265T

c.795A>T

1 paper

NM_000122.2

p.E264Q

c.790G>C

1 paper

NM_000122.2

p.Q266*

c.796C>T

1 paper

NM_000122.2

p.E262D

c.786A>T

1 paper

NM_000122.2

p.E262D

c.786A>C

2 papers

NM_000122.2

p.E262fs

c.784_785fs