Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.Q59L

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
3 papers
NM_013267.4
p.Q59L
c.176A>T
Surrounding Variants
1 paper
NM_013267.4
p.H58Q
c.174C>G
1 paper
NM_013267.4
p.H58Q
c.174C>A
1 paper
NM_013267.4
p.H61R
c.182A>G
1 paper
NM_013267.4
p.Q55insFs
c.165dupG
1 paper
NM_013267.4
p.H54L
c.161A>T
1 paper
NM_013267.4
p.S53N
c.158G>A
2 papers
NM_013267.4
p.G35_A43del0
c.104_127del24
1 paper
NM_013267.4
p.H38L
c.113A>T
1 paper
NM_013267.4
p.V36L
c.106G>C
1 paper
NM_013267.4
p.G35fs
c.103_104fs
1 paper
NM_013267.4
p.G35delFs
c.104delC
1 paper
NM_013267.4
p.G24_P26del3
c.70_77del9
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