Varaico: Literature-Extracted Genetic Variants

Gene:ENO1
Variant:p.S310N

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
2 papers
NM_001428.5
p.S310N
c.929G>A
Surrounding Variants
1 paper
NM_001428.5
p.G312R
c.934G>C
1 paper
NM_001428.5
p.G312R
c.934G>A
1 paper
NM_001428.5
p.F307delFs
c.921delG
1 paper
NM_001428.5
p.F307fs
c.919_920fs
1 paper
NM_001428.5
p.D319A
c.956A>C
1 paper
NM_001428.5
p.D319insFs
c.956_957insA
1 paper
NM_001428.5
p.T323I
c.968C>T
1 paper
NM_001428.5
p.P325Q
c.974C>A
1 paper
NM_001428.5
p.D294N
c.880G>A
1 paper
NM_001428.5
p.D319_I328delFs
c.956_983del28
2 papers
NM_001428.5
p.A329T
c.985G>A
1 paper
NM_001428.5
p.V290M
c.868G>A
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