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.G409D

c.1226G>A

Surrounding Variants

1 paper

NM_014905.5

p.T405K

c.1214C>A

4 papers

NM_014905.5

p.Y414C

c.1241A>G

1 paper

NM_014905.5

p.T405delFs

c.1214_1215delCA

1 paper

NM_014905.5

p.Q416_L417Splc

c.1248+1G>A

1 paper

NM_014905.5

p.K399_C400Splc

c.1197+2T>C

1 paper

NM_014905.5

p.K396N

c.1188A>C

1 paper

NM_014905.5

p.S384T

c.1151G>C

1 paper

NM_014905.5

p.E383A

c.1148A>C

1 paper

NM_014905.5

p.E383Q

c.1147G>C

1 paper

NM_014905.5

p.S380A

c.1138T>G

1 paper

NM_014905.5

p.T377Splc

c.1131-1G>C

1 paper

NM_014905.5

p.L417V

c.1249C>G