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.R36R

c.108G>A

Surrounding Variants

1 paper

NM_014905.5

p.R36G

c.106C>G

1 paper

NM_014905.5

p.R37H

c.110G>A

1 paper

NM_014905.5

p.R37R

c.111T>A

1 paper

NM_014905.5

p.P38H

c.113C>A

2 papers

NM_014905.5

p.C35_R43del0

c.104_127del24

1 paper

NM_014905.5

p.G40G

c.120C>A

2 papers

NM_014905.5

p.G41V

c.122G>T

1 paper

NM_014905.5

p.G41G

c.123G>A

1 paper

NM_014905.5

p.L31M

c.91T>A

2 papers

NM_014905.5

p.R43delFs

c.127delC

1 paper

NM_014905.5

p.P30A

c.88C>G

1 paper

NM_014905.5

p.R27Q

c.80G>A