Varaico: Literature-Extracted Genetic Variants

Gene:ENO2
Variant:p.Y257C

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.Y257C
c.770A>G
Surrounding Variants
1 paper
NM_001975.3
p.L259delFs
c.777delG
1 paper
NM_001975.3
p.F251_Y252del1
c.752_754delTTT
1 paper
NM_001975.3
p.T265delFs
c.795delT
1 paper
NM_001975.3
p.V246G
c.737T>G
2 papers
NM_001975.3
p.D274G
c.821A>G
1 paper
NM_001975.3
p.I240insFs
c.718dupA
1 paper
NM_001975.3
p.T237M
c.710C>T
1 paper
NM_001975.3
p.G277G
c.831G>T
1 paper
NM_001975.3
p.L279P
c.836T>C
1 paper
NM_001975.3
p.D232_A234del0
c.694_702del9
1 paper
NM_001975.3
p.K228_E229del2
c.682_686del6
1 paper
NM_001975.3
p.S221T
c.662G>C
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