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.E78fs

c.232_233fs

Surrounding Variants

1 paper

NM_014905.5

p.E78_Q81Fs

c.233_242delinsGTFs

4 papers

NM_014905.5

p.Q81*

c.241C>T

1 paper

NM_014905.5

p.S75T

c.223T>A

1 paper

NM_014905.5

p.S75A

c.223T>G

1 paper

NM_014905.5

p.Q81Fs

c.242delinsGTFs

1 paper

NM_014905.5

p.Q81H

c.243G>T

1 paper

NM_014905.5

p.S73P

c.217T>C

1 paper

NM_014905.5

p.S73A

c.217T>G

1 paper

NM_014905.5

p.S73fs

c.217_218fs

1 paper

NM_014905.5

p.R70R

c.210G>A

1 paper

NM_014905.5

p.R70W

c.208C>T

1 paper

NM_014905.5

p.G86G

c.258G>A