Varaico: Literature-Extracted Genetic Variants

ERCC1

441 papers

RefSeq Summary

The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds inclu...

Pfam Domains

Rad10aa 100–213UCSCBinding domain of DNA repair protein Ercc1 (rad10/Swi10)

HHHaa 259–288UCSCHelix-hairpin-helix motif

Gene Aliases

HGNC Name

ERCC excision repair 1, endonuclease non-catalytic subunit

HGNC Alias Symbol

RAD10

Papers

RefSeq ID

Protein change

DNA change

1–12 of 291 variants

36 papers

NM_001983.4

p.N118N

c.354T>C

18 papers

NM_001983.4

p.F231L

c.693C>G

17 papers

NM_001983.4

p.F231L

c.691T>C

17 papers

NM_001983.4

p.F231L

c.693C>A

9 papers

NM_001983.4

p.R41*

c.121C>T

9 papers

NM_001983.4

p.R156W

c.466C>T

8 papers

NM_001983.4

p.Q158*

c.472C>T

7 papers

NM_001983.4

p.K226*

c.676A>T

5 papers

NM_001983.4

p.L26P

c.77T>C

5 papers

NM_001983.4

p.Q107_R108Splc

c.321+74C>G

5 papers

NM_001983.4

p.Y145H

c.433T>C

4 papers

NM_001983.4

p.A199T

c.595G>A