Varaico: Literature-Extracted Genetic Variants

Gene:ENO1
Variant:p.G391W

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.G391W
c.1171G>T
Surrounding Variants
1 paper
NM_001428.5
p.T390I
c.1169C>T
1 paper
NM_001428.5
p.V386E
c.1157T>A
1 paper
NM_001428.5
p.V385I
c.1153G>A
1 paper
NM_001428.5
p.F380V
c.1138T>G
1 paper
NM_001428.5
p.E375*
c.1123G>T
1 paper
NM_001428.5
p.E375K
c.1123G>A
1 paper
NM_001428.5
p.G374E
c.1121G>A
1 paper
NM_001428.5
p.S373L
c.1118C>T
1 paper
NM_001428.5
p.G366G
c.1098C>T
1 paper
NM_001428.5
p.L359V
c.1075C>G
2 papers
NM_001428.5
p.C357Y
c.1070G>A
1 paper
NM_001428.5
p.A397P
c.1189G>C
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