Varaico: Literature-Extracted Genetic Variants

Gene:ENO2
Variant:p.K5_W7insFs

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.K5_W7insFs
c.14_20dup7
Surrounding Variants
1 paper
NM_001975.3
p.E4E
c.12G>A
2 papers
NM_001975.3
p.E4D
c.12G>C
1 paper
NM_001975.3
p.W7insFs
c.19dupT
1 paper
NM_001975.3
p.M1I
c.3G>A
1 paper
NM_001975.3
p.M1I
c.3G>C
1 paper
NM_001975.3
p.M1I
c.3G>T
1 paper
NM_001975.3
p.M1K
c.2T>A
2 papers
NM_001975.3
p.M1V
c.1A>G
1 paper
NM_001975.3
p.R9insFs
c.27dupG
1 paper
NM_001975.3
p.M1_K5del5
c.1_14del15
1 paper
NM_001975.3
p.M1_S2delFs
c.1_5del5
1 paper
NM_001975.3
p.L12_D13insFs
c.36_37insC
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