Varaico: Literature-Extracted Genetic Variants

GLS

513 papers

RefSeq Summary

This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein i...

Pfam Domains

EF-hand_14aa 139–222UCSCEF-hand domain

Glutaminaseaa 244–530UCSCGlutaminase

Ank_2aa 557–649UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

glutaminase

HGNC Alias Symbols

KIAA0838; GLS1; GAC; GAM; KGA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014905.5

p.S118C

c.352A>T

Surrounding Variants

1 paper

NM_014905.5

p.G120R

c.358G>C

1 paper

NM_014905.5

p.F115S

c.344T>C

1 paper

NM_014905.5

p.E122G

c.365A>G

1 paper

NM_014905.5

p.E122V

c.365A>T

2 papers

NM_014905.5

p.T112A

c.334A>G

1 paper

NM_014905.5

p.V124M

c.370G>A

1 paper

NM_014905.5

p.V124_A125delFs

c.372_375del4

1 paper

NM_014905.5

p.V124V

c.372G>A

1 paper

NM_014905.5

p.G110A

c.329G>C

1 paper

NM_014905.5

p.P109P

c.327C>A

1 paper

NM_014905.5

p.G110delFs

c.328delG

1 paper

NM_014905.5

p.G127A

c.380G>C