Varaico: Literature-Extracted Genetic Variants

Gene:ENO1
Variant:p.A230D

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.A230D
c.689C>A
Surrounding Variants
1 paper
NM_001428.5
p.T229T
c.687T>C
1 paper
NM_001428.5
p.L224P
c.671T>C
2 papers
NM_001428.5
p.K239Q
c.715A>C
2 papers
NM_001428.5
p.K239N
c.717G>T
2 papers
NM_001428.5
p.K239N
c.717G>C
2 papers
NM_001428.5
p.I242V
c.724A>G
1 paper
NM_001428.5
p.G243S
c.727G>A
1 paper
NM_001428.5
p.M244I
c.732G>T
1 paper
NM_001428.5
p.M244I
c.732G>C
1 paper
NM_001428.5
p.M244I
c.732G>A
1 paper
NM_001428.5
p.D245E
c.735C>G
1 paper
NM_001428.5
p.D245E
c.735C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."