Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.Q1002R

ERCC5

1,002 papers

RefSeq Summary

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, in...

Pfam Domains

XPG_Naa 1–98UCSCXPG N-terminal domain
XPG_Iaa 780–861UCSCXPG I-region

Gene Aliases

HGNC Name

ERCC excision repair 5, endonuclease

HGNC Previous Symbols

ERCM2; XPGC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000123.4
p.Q1002R
c.3005A>G
Surrounding Variants
1 paper
NM_000123.4
p.Q1002*
c.3004C>T
5 papers
NM_000123.4
p.L999V
c.2995T>G
1 paper
NM_000123.4
p.D1006H
c.3016G>C
1 paper
NM_000123.4
p.D1006A
c.3017A>C
1 paper
NM_000123.4
p.R998T
c.2993G>C
1 paper
NM_000123.4
p.A1007insFs
c.3020_3021insT
1 paper
NM_000123.4
p.F997fs
c.2989_2990fs
1 paper
NM_000123.4
p.K1008*
c.3022A>T
1 paper
NM_000123.4
p.F996I
c.2986T>A
2 papers
NM_000123.4
p.R1009C
c.3025C>T
2 papers
NM_000123.4
p.S995F
c.2984C>T
1 paper
NM_000123.4
p.R1009H
c.3026G>A
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