Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.S12I

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
1 paper
NM_013267.4
p.S12I
c.35G>T
Surrounding Variants
1 paper
NM_013267.4
p.S12N
c.35G>A
1 paper
NM_013267.4
p.Q8_K9del1
c.24_26delTTC
1 paper
NM_013267.4
p.Q8_K9del2
c.22_26del6
1 paper
NM_013267.4
p.G15delFs
c.45delG
1 paper
NM_013267.4
p.M4I
c.12G>C
1 paper
NM_013267.4
p.R20G
c.58C>G
1 paper
NM_013267.4
p.S3delFs
c.8_9delGG
1 paper
NM_013267.4
p.M1_R2insFs
c.3_4insCT
1 paper
NM_013267.4
p.W23*
c.69G>A
1 paper
NM_013267.4
p.G24_P26del3
c.70_77del9
1 paper
NM_013267.4
p.G35fs
c.103_104fs
1 paper
NM_013267.4
p.G35delFs
c.104delC
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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."