Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.G176R

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.G176R
c.526G>C
Surrounding Variants
2 papers
NM_013267.4
p.G176R
c.526G>A
1 paper
NM_013267.4
p.G177D
c.530G>A
1 paper
NM_013267.4
p.E169Q
c.505G>C
1 paper
NM_013267.4
p.P155fs
c.463_464fs
1 paper
NM_013267.4
p.I154F
c.460A>T
2 papers
NM_013267.4
p.R149Q
c.446G>A
1 paper
NM_013267.4
p.R134*
c.400C>T
1 paper
NM_013267.4
p.R130*
c.388C>T
1 paper
NM_013267.4
p.S124_G125delFs
c.372_375del4
1 paper
NM_013267.4
p.Q120L
c.359A>T
1 paper
NM_013267.4
p.R117H
c.350G>A
1 paper
NM_013267.4
p.R109*
c.325C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."