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.L434L

c.1300C>T

Surrounding Variants

2 papers

NM_014905.5

p.A432S

c.1294G>T

1 paper

NM_014905.5

p.A431V

c.1292C>T

1 paper

NM_014905.5

p.P441_I442insAC

c.1321_1325ins6

1 paper

NM_014905.5

p.S426L

c.1277C>T

1 paper

NM_014905.5

p.G444S

c.1330G>A

1 paper

NM_014905.5

p.T423A

c.1267A>G

1 paper

NM_014905.5

p.S419ins2

c.1255_1256ins6

1 paper

NM_014905.5

p.L417V

c.1249C>G

1 paper

NM_014905.5

p.L457S

c.1370T>C

1 paper

NM_014905.5

p.S458_Q471del14

c.1372_1412del42

1 paper

NM_014905.5

p.M460L

c.1378A>T

4 papers

NM_014905.5

p.H461L

c.1382A>T