Varaico: Literature-Extracted Genetic Variants

Gene:ENO2
Variant:p.L171F

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.L171F
c.511C>T
Surrounding Variants
1 paper
NM_001975.3
p.V173G
c.518T>G
1 paper
NM_001975.3
p.G174E
c.521G>A
1 paper
NM_001975.3
p.L163delFs
c.488delT
1 paper
NM_001975.3
p.N161_L163del3
c.481_488del9
1 paper
NM_001975.3
p.A159delFs
c.476delC
1 paper
NM_001975.3
p.L184delFs
c.551delT
1 paper
NM_001975.3
p.V188I
c.562G>A
1 paper
NM_001975.3
p.F150Y
c.449T>A
1 paper
NM_001975.3
p.A149_F150delFs
c.447_448delCT
1 paper
NM_001975.3
p.K193R
c.578A>G
1 paper
NM_001975.3
p.G194_V195insFs
c.582_583insTA
1 paper
NM_001975.3
p.I196delFs
c.587_588delTC
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