Varaico: Literature-Extracted Genetic Variants

Gene:ENO2
Variant:p.A117V

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
2 papers
NM_001975.3
p.A117V
c.350C>T
Surrounding Variants
1 paper
NM_001975.3
p.K120insFs
c.359dupA
1 paper
NM_001975.3
p.K120R
c.359A>G
1 paper
NM_001975.3
p.E127K
c.379G>A
1 paper
NM_001975.3
p.A108delFs
c.322delG
1 paper
NM_001975.3
p.A135_L137delFs
c.405_409del5
1 paper
NM_001975.3
p.L137insFs
c.411dupG
1 paper
NM_001975.3
p.A138insFs
c.412_413insT
1 paper
NM_001975.3
p.A138S
c.412G>T
1 paper
NM_001975.3
p.A138_N140del0
c.414_419del6
1 paper
NM_001975.3
p.P146insFs
c.437dupC
1 paper
NM_001975.3
p.P148S
c.442C>T
1 paper
NM_001975.3
p.A149_F150delFs
c.447_448delCT
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