Varaico: Literature-Extracted Genetic Variants

Gene:ENO1
Variant:p.K5T

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.K5T
c.14A>C
Surrounding Variants
1 paper
NM_001428.5
p.F12L
c.36T>A
1 paper
NM_001428.5
p.R15L
c.44G>T
1 paper
NM_001428.5
p.N17insFs
c.49_50insG
1 paper
NM_001428.5
p.T19S
c.55A>T
1 paper
NM_001428.5
p.P18insFs
c.52dupC
1 paper
NM_001428.5
p.V20G
c.59T>G
1 paper
NM_001428.5
p.E21*
c.61G>T
1 paper
NM_001428.5
p.S27*
c.80C>G
1 paper
NM_001428.5
p.S27*
c.80C>A
1 paper
NM_001428.5
p.K28I
c.83A>T
1 paper
NM_001428.5
p.K28T
c.83A>C
1 paper
NM_001428.5
p.L30F
c.88C>T
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