Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.E591A

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.E591A
c.1772A>C
Surrounding Variants
2 papers
NM_013267.4
p.E596Q
c.1786G>C
1 paper
NM_013267.4
p.A586G
c.1757C>G
3 papers
NM_013267.4
p.L581P
c.1742T>C
1 paper
NM_013267.4
p.V602A
c.1805T>C
1 paper
NM_013267.4
p.V569F
c.1705G>T
2 papers
NM_013267.4
p.E533K
c.1597G>A
1 paper
NM_013267.4
p.V525I
c.1573G>A
1 paper
NM_013267.4
p.D518G
c.1553A>G
1 paper
NM_013267.4
p.S500P
c.1498T>C
1 paper
NM_013267.4
p.D498N
c.1492G>A
1 paper
NM_013267.4
p.F492Y
c.1475T>A
1 paper
NM_013267.4
p.E481D
c.1443A>C
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