Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.T232insFs

GLS2

146 papers

RefSeq Summary

The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to...

Pfam Domains

Glutaminaseaa 1–198UCSCGlutaminase
EF-hand_14aa 72–155UCSCEF-hand domain
Ank_2aa 225–317UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

glutaminase 2

HGNC Alias Symbols

GA; LGA; hLGA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013267.4
p.T232insFs
c.695dupC
Surrounding Variants
1 paper
NM_013267.4
p.C220F
c.659G>T
1 paper
NM_013267.4
p.Q218Q
c.654G>A
2 papers
NM_013267.4
p.R250H
c.749G>A
1 paper
NM_013267.4
p.Y251F
c.752A>T
1 paper
NM_013267.4
p.S255F
c.764C>T
1 paper
NM_013267.4
p.G260Splc
c.778+3G>T
1 paper
NM_013267.4
p.T200A
c.598A>G
1 paper
NM_013267.4
p.P191R
c.572C>G
1 paper
NM_013267.4
p.A269S
c.805G>T
1 paper
NM_013267.4
p.G177D
c.530G>A
2 papers
NM_013267.4
p.G176R
c.526G>C
2 papers
NM_013267.4
p.G176R
c.526G>A
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