Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.M432L

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.M432L
c.1294A>T
Surrounding Variants
2 papers
NM_013267.4
p.M432L
c.1294A>C
2 papers
NM_013267.4
p.L441insFs
c.1323dupG
2 papers
NM_013267.4
p.P412S
c.1234C>T
1 paper
NM_013267.4
p.Q452*
c.1354C>T
1 paper
NM_013267.4
p.Q452_K453Splc
c.1356+39C>G
4 papers
NM_013267.4
p.H461L
c.1382A>T
2 papers
NM_013267.4
p.Y463delFs
c.1388delT
1 paper
NM_013267.4
p.F458_R471del14
c.1372_1412del42
1 paper
NM_013267.4
p.L473*
c.1418T>G
1 paper
NM_013267.4
p.E481D
c.1443A>C
1 paper
NM_013267.4
p.F492Y
c.1475T>A
1 paper
NM_013267.4
p.D498N
c.1492G>A
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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."