Varaico: Literature-Extracted Genetic Variants

Gene:ENO1
Variant:p.L30F

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.L30F
c.88C>T
Surrounding Variants
1 paper
NM_001428.5
p.R32K
c.95G>A
1 paper
NM_001428.5
p.A34V
c.101C>T
1 paper
NM_001428.5
p.G38R
c.112G>C
1 paper
NM_001428.5
p.G38insFs
c.113_114insT
1 paper
NM_001428.5
p.A39P
c.115G>C
2 papers
NM_001428.5
p.S40A
c.118T>G
1 paper
NM_001428.5
p.G42S
c.124G>A
1 paper
NM_001428.5
p.I43F
c.127A>T
1 paper
NM_001428.5
p.E48K
c.142G>A
1 paper
NM_001428.5
p.R50W
c.148C>T
2 papers
NM_001428.5
p.D51N
c.151G>A
1 paper
NM_001428.5
p.D51delFs
c.151_152delTC
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