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.F373insFs

c.1118_1119insA

Surrounding Variants

1 paper

NM_014905.5

p.F373fs

c.1117_1118fs

1 paper

NM_014905.5

p.G372_N375del4

c.1114_1124del12

1 paper

NM_014905.5

p.E369Q

c.1105G>C

1 paper

NM_014905.5

p.M365T

c.1094T>C

1 paper

NM_014905.5

p.K364ins1

c.1091_1092insAGC

1 paper

NM_014905.5

p.K364E

c.1090A>G

1 paper

NM_014905.5

p.F361V

c.1081T>G

1 paper

NM_014905.5

p.Y357_V358Splc

c.1071+1G>T

1 paper

NM_014905.5

p.E353A

c.1058A>C

1 paper

NM_014905.5

p.A352V

c.1055C>T

1 paper

NM_014905.5

p.A352T

c.1054G>A

1 paper

NM_014905.5

p.T377Splc

c.1131-1G>C