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.M465I

c.1395G>C

Surrounding Variants

2 papers

NM_014905.5

p.M465I

c.1395G>A

1 paper

NM_014905.5

p.M465I

c.1395G>T

1 paper

NM_014905.5

p.Y466C

c.1397A>G

1 paper

NM_014905.5

p.G464D

c.1391G>A

1 paper

NM_014905.5

p.F468Y

c.1403T>A

2 papers

NM_014905.5

p.C463delFs

c.1388delG

1 paper

NM_014905.5

p.S469L

c.1406C>T

1 paper

NM_014905.5

p.S462A

c.1384T>G

4 papers

NM_014905.5

p.H461L

c.1382A>T

1 paper

NM_014905.5

p.G470R

c.1408G>A

1 paper

NM_014905.5

p.Q471K

c.1411C>A

1 paper

NM_014905.5

p.M460L

c.1378A>T