Varaico: Literature-Extracted Genetic Variants

Gene:ENO2
Variant:p.F307delFs

ENO2

155 papers

RefSeq Summary

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enola...

Pfam Domains

Enolase_Naa 3–134UCSCEnolase, N-terminal domain
Enolase_Caa 142–432UCSCEnolase, C-terminal TIM barrel domain

Gene Aliases

HGNC Name

enolase 2

HGNC Alias Symbol

NSE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001975.3
p.F307delFs
c.921delC
Surrounding Variants
1 paper
NM_001975.3
p.T308P
c.922A>C
1 paper
NM_001975.3
p.W304delFs
c.912delG
1 paper
NM_001975.3
p.I315_D318delFs
c.944_953del10
1 paper
NM_001975.3
p.D300Y
c.898G>T
1 paper
NM_001975.3
p.S291S
c.873C>G
1 paper
NM_001975.3
p.N324delFs
c.970_971delAA
1 paper
NM_001975.3
p.R330Q
c.989G>A
1 paper
NM_001975.3
p.A336delFs
c.1007_1008delCC
1 paper
NM_001975.3
p.L340_L341delFs
c.1020_1023del4
1 paper
NM_001975.3
p.V344delFs
c.1030delG
1 paper
NM_001975.3
p.V344I
c.1030G>A
1 paper
NM_001975.3
p.N345insFs
c.1033_1034dupAA
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