Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.S124_G125delFs

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.S124_G125delFs
c.372_375del4
Surrounding Variants
1 paper
NM_013267.4
p.R130*
c.388C>T
1 paper
NM_013267.4
p.Q120L
c.359A>T
1 paper
NM_013267.4
p.R134*
c.400C>T
1 paper
NM_013267.4
p.R117H
c.350G>A
1 paper
NM_013267.4
p.R109*
c.325C>T
1 paper
NM_013267.4
p.R107Q
c.320G>A
1 paper
NM_013267.4
p.R107W
c.319C>T
1 paper
NM_013267.4
p.G100E
c.299G>A
1 paper
NM_013267.4
p.P88T
c.262C>A
1 paper
NM_013267.4
p.R86Q
c.257G>A
1 paper
NM_013267.4
p.Q84H
c.252G>C
1 paper
NM_013267.4
p.Y78Y
c.234C>T
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