Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.N308insFs

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.N308insFs
c.923dupA
Surrounding Variants
1 paper
NM_013267.4
p.S307N
c.920G>A
2 papers
NM_013267.4
p.F290_V291Splc
c.870+1G>T
2 papers
NM_013267.4
p.D281G
c.842A>G
2 papers
NM_013267.4
p.S313L
c.938C>T
1 paper
NM_013267.4
p.R320W
c.958C>T
1 paper
NM_013267.4
p.L367L
c.1101C>T
1 paper
NM_013267.4
p.I372_I375del4
c.1114_1124del12
1 paper
NM_013267.4
p.E378K
c.1132G>A
1 paper
NM_013267.4
p.L390_S391insFs
c.1170_1171insT
2 papers
NM_013267.4
p.P412S
c.1234C>T
1 paper
NM_013267.4
p.A269S
c.805G>T
2 papers
NM_013267.4
p.M432L
c.1294A>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."