Varaico: Literature-Extracted Genetic Variants

Gene:ENO1
Variant:p.I284M

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.I284M
c.852C>G
Surrounding Variants
1 paper
NM_001428.5
p.K281R
c.842A>G
1 paper
NM_001428.5
p.A277V
c.830C>T
1 paper
NM_001428.5
p.A277D
c.830C>A
1 paper
NM_001428.5
p.L276P
c.827T>C
1 paper
NM_001428.5
p.S272T
c.814T>A
1 paper
NM_001428.5
p.R269G
c.805A>G
1 paper
NM_001428.5
p.S268N
c.803G>A
1 paper
NM_001428.5
p.P264S
c.790C>T
1 paper
NM_001428.5
p.K262R
c.785A>G
1 paper
NM_001428.5
p.K256R
c.767A>G
1 paper
NM_001428.5
p.S254P
c.760T>C
1 paper
NM_001428.5
p.R253K
c.758G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."