Varaico: Literature-Extracted Genetic Variants

Gene:ENO1
Variant:p.Y57H

ENO1

180 papers

RefSeq Summary

This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme....

Pfam Domains

Enolase_Naa 3–134UCSCEnolase, N-terminal domain
Enolase_Caa 142–432UCSCEnolase, C-terminal TIM barrel domain

Gene Aliases

HGNC Name

enolase 1

HGNC Previous Symbols

ENO1L1; MPB1; ENO1-IT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001428.5
p.Y57H
c.169T>C
Surrounding Variants
1 paper
NM_001428.5
p.R56L
c.167G>T
1 paper
NM_001428.5
p.R56H
c.167G>A
1 paper
NM_001428.5
p.T55T
c.165T>C
1 paper
NM_001428.5
p.M58I
c.174G>T
1 paper
NM_001428.5
p.M58I
c.174G>C
1 paper
NM_001428.5
p.M58I
c.174G>A
1 paper
NM_001428.5
p.K60E
c.178A>G
1 paper
NM_001428.5
p.K54E
c.160A>G
1 paper
NM_001428.5
p.D51delFs
c.151_152delTC
2 papers
NM_001428.5
p.D51N
c.151G>A
1 paper
NM_001428.5
p.R50W
c.148C>T
1 paper
NM_001428.5
p.E48K
c.142G>A
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