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.F224fs

c.670_671fs

Surrounding Variants

1 paper

NM_014905.5

p.F224_F227delFs

c.671_681del11

1 paper

NM_014905.5

p.D223N

c.667G>A

1 paper

NM_014905.5

p.M225T

c.674T>C

1 paper

NM_014905.5

p.F227L

c.679T>C

1 paper

NM_014905.5

p.F227L

c.681T>A

1 paper

NM_014905.5

p.V220A

c.659T>C

1 paper

NM_014905.5

p.F227L

c.681T>G

1 paper

NM_014905.5

p.T228S

c.682A>T

1 paper

NM_014905.5

p.T228S

c.683C>G

1 paper

NM_014905.5

p.R217K

c.650G>A

3 papers

NM_014905.5

p.D232insFs

c.695dupA

5 papers

NM_014905.5

p.D232fs

c.694_695fs