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.M508delFs

c.1524delG

Surrounding Variants

1 paper

NM_014905.5

p.G509A

c.1526G>C

1 paper

NM_014905.5

p.I515delFs

c.1543delA

1 paper

NM_014905.5

p.H516delFs

c.1548delC

1 paper

NM_014905.5

p.F517I

c.1549T>A

1 paper

NM_014905.5

p.H519Fs

c.1555delinsAAFs

1 paper

NM_014905.5

p.N494S

c.1481A>G

1 paper

NM_014905.5

p.I488V

c.1462A>G

6 papers

NM_014905.5

p.S482C

c.1445C>G

2 papers

NM_014905.5

p.K481N

c.1443A>C

2 papers

NM_014905.5

p.K481N

c.1443A>T

1 paper

NM_014905.5

p.G477C

c.1429G>T

3 papers

NM_014905.5

p.D520H

c.1558G>C