Varaico: Literature-Extracted Genetic Variants

Gene:GLS2

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
1–12 of 91 variants
4 papers
NM_013267.4
p.H461L
c.1382A>T
3 papers
NM_013267.4
p.Q59L
c.176A>T
3 papers
NM_013267.4
p.L581P
c.1742T>C
2 papers
NM_013267.4
p.G35_A43del0
c.104_127del24
2 papers
NM_013267.4
p.R149Q
c.446G>A
2 papers
NM_013267.4
p.G176R
c.526G>C
2 papers
NM_013267.4
p.G176R
c.526G>A
2 papers
NM_013267.4
p.T232insFs
c.695dupC
2 papers
NM_013267.4
p.R250H
c.749G>A
2 papers
NM_013267.4
p.D281G
c.842A>G
2 papers
NM_013267.4
p.F290_V291Splc
c.870+1G>T
2 papers
NM_013267.4
p.N308insFs
c.923dupA
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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."