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

3 papers

NM_014905.5

p.D520H

c.1558G>C

Surrounding Variants

1 paper

NM_014905.5

p.F527insFs

c.1579_1580insA

2 papers

NM_014905.5

p.E545K

c.1633G>A

1 paper

NM_014905.5

p.G546D

c.1637G>A

1 paper

NM_014905.5

p.D548G

c.1643A>G

1 paper

NM_014905.5

p.Q549*

c.1645C>T

1 paper

NM_014905.5

p.R550_V551insFs

c.1650_1651insC

1 paper

NM_014905.5

p.H519Fs

c.1555delinsAAFs

1 paper

NM_014905.5

p.F517I

c.1549T>A

1 paper

NM_014905.5

p.H516delFs

c.1548delC

1 paper

NM_014905.5

p.I515delFs

c.1543delA

1 paper

NM_014905.5

p.G509A

c.1526G>C

1 paper

NM_014905.5

p.M508delFs

c.1524delG