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

2 papers

NM_014905.5

p.H89P

c.266A>C

Surrounding Variants

1 paper

NM_014905.5

p.T88P

c.262A>C

1 paper

NM_014905.5

p.G86G

c.258G>A

2 papers

NM_014905.5

p.G93V

c.278G>T

1 paper

NM_014905.5

p.S95A

c.283T>G

1 paper

NM_014905.5

p.Q81H

c.243G>T

1 paper

NM_014905.5

p.Q81Fs

c.242delinsGTFs

4 papers

NM_014905.5

p.Q81*

c.241C>T

1 paper

NM_014905.5

p.A98V

c.293C>T

1 paper

NM_014905.5

p.A98A

c.294T>A

1 paper

NM_014905.5

p.A99T

c.295G>A

1 paper

NM_014905.5

p.E78_Q81Fs

c.233_242delinsGTFs

1 paper

NM_014905.5

p.E78fs

c.232_233fs