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.L14I

c.40C>A

Surrounding Variants

1 paper

NM_014905.5

p.L14F

c.40C>T

1 paper

NM_014905.5

p.L13Q

c.38T>A

1 paper

NM_014905.5

p.D12N

c.34G>A

2 papers

NM_014905.5

p.D12H

c.34G>C

2 papers

NM_014905.5

p.D12Y

c.34G>T

1 paper

NM_014905.5

p.S17*

c.50C>A

1 paper

NM_014905.5

p.G6G

c.18C>T

1 paper

NM_014905.5

p.S22_T24delFs

c.64_71del8

1 paper

NM_014905.5

p.S22R

c.64A>C

1 paper

NM_014905.5

p.R5R

c.15A>T

1 paper

NM_014905.5

p.S22R

c.66C>A

1 paper

NM_014905.5

p.S22R

c.66C>G