Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.T479M

EXO1

925 papers

RefSeq Summary

This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involve...

Pfam Domains

XPG_Naa 1–99UCSCXPG N-terminal domain
XPG_Iaa 141–225UCSCXPG I-region

Gene Aliases

HGNC Name

exonuclease 1

HGNC Alias Symbols

HEX1; hExoI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130398.4
p.T479M
c.1436C>T
Surrounding Variants
1 paper
NM_130398.4
p.T479R
c.1436C>G
1 paper
NM_130398.4
p.R480G
c.1438A>G
1 paper
NM_130398.4
p.P477R
c.1430C>G
1 paper
NM_130398.4
p.P476L
c.1427C>T
3 papers
NM_130398.4
p.F483C
c.1448T>G
1 paper
NM_130398.4
p.A484_L487del0
c.1450_1461del12
1 paper
NM_130398.4
p.A484T
c.1450G>A
2 papers
NM_130398.4
p.V473V
c.1419A>G
2 papers
NM_130398.4
p.T485K
c.1454C>A
1 paper
NM_130398.4
p.T485I
c.1454C>T
1 paper
NM_130398.4
p.V473insFs
c.1417dupG
1 paper
NM_130398.4
p.F486L
c.1458T>G
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