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.G262A

c.785G>C

Surrounding Variants

1 paper

NM_014905.5

p.D259Y

c.775G>T

1 paper

NM_014905.5

p.P258_D259ins1

c.774_775insTCG

1 paper

NM_014905.5

p.D269N

c.805G>A

4 papers

NM_014905.5

p.R272K

c.815G>A

1 paper

NM_014905.5

p.Q252*

c.754C>T

1 paper

NM_014905.5

p.R272Splc

c.815+1G>A

1 paper

NM_014905.5

p.R272Splc

c.815+5G>A

1 paper

NM_014905.5

p.V246A

c.737T>C

1 paper

NM_014905.5

p.K245_V246Splc

c.736-1G>C

1 paper

NM_014905.5

p.K245_V246Splc

c.736-406A>G

1 paper

NM_014905.5

p.K240R

c.719A>G

1 paper

NM_014905.5

p.A238T

c.712G>A