Varaico: Literature-Extracted Genetic Variants

Gene:ENO2
Variant:p.Q409*

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.Q409*
c.1225C>T
Surrounding Variants
1 paper
NM_001975.3
p.L410I
c.1228C>A
3 papers
NM_001975.3
p.M411L
c.1231A>C
2 papers
NM_001975.3
p.M411L
c.1231A>T
1 paper
NM_001975.3
p.M411I
c.1233G>A
1 paper
NM_001975.3
p.M411I
c.1233G>C
1 paper
NM_001975.3
p.M411I
c.1233G>T
1 paper
NM_001975.3
p.R412insFs
c.1235_1236insAA
1 paper
NM_001975.3
p.L404P
c.1211T>C
1 paper
NM_001975.3
p.A405_Q409del5
c.1213_1226del15
1 paper
NM_001975.3
p.R412Splc
c.1235+5G>A
1 paper
NM_001975.3
p.K394E
c.1180A>G
1 paper
NM_001975.3
p.Q392_I393Splc
c.1176+3G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."