Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.K1079fs

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
1 paper
NM_000123.4
p.K1079fs
c.3235_3236fs
Surrounding Variants
1 paper
NM_000123.4
p.K1079_G1080insFs
c.3237_3238insC
2 papers
NM_000123.4
p.S1078F
c.3233C>T
14 papers
NM_000123.4
p.G1080R
c.3238G>A
16 papers
NM_000123.4
p.G1080R
c.3238G>C
7 papers
NM_000123.4
p.G1080*
c.3238G>T
1 paper
NM_000123.4
p.S1078A
c.3232T>G
1 paper
NM_000123.4
p.G1080E
c.3239G>A
1 paper
NM_000123.4
p.S1076L
c.3227C>T
1 paper
NM_000123.4
p.C1084Y
c.3251G>A
3 papers
NM_000123.4
p.G1085S
c.3253G>A
4 papers
NM_000123.4
p.G1086R
c.3256G>A
4 papers
NM_000123.4
p.G1086R
c.3256G>C
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