Varaico: Literature-Extracted Genetic Variants

Gene:ENO1
Variant:p.P148_A149Splc

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.P148_A149Splc
c.444+1G>A
Surrounding Variants
1 paper
NM_001428.5
p.N140S
c.419A>G
1 paper
NM_001428.5
p.D136G
c.407A>G
1 paper
NM_001428.5
p.A135T
c.403G>A
2 papers
NM_001428.5
p.V124I
c.370G>A
1 paper
NM_001428.5
p.V118I
c.352G>A
1 paper
NM_001428.5
p.V114M
c.340G>A
1 paper
NM_001428.5
p.G107S
c.319G>A
1 paper
NM_001428.5
p.F106V
c.316T>G
1 paper
NM_001428.5
p.K105E
c.313A>G
1 paper
NM_001428.5
p.S104Splc
c.311-1G>C
1 paper
NM_001428.5
p.S104Splc
c.311-1G>A
1 paper
NM_001428.5
p.P148_A149Splc
c.445-31G>T
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