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.A102E

c.305C>A

Surrounding Variants

3 papers

NM_014905.5

p.A101V

c.302C>T

2 papers

NM_014905.5

p.A101P

c.301G>C

1 paper

NM_014905.5

p.G104D

c.311G>A

1 paper

NM_014905.5

p.P105L

c.314C>T

1 paper

NM_014905.5

p.A99T

c.295G>A

1 paper

NM_014905.5

p.A98A

c.294T>A

1 paper

NM_014905.5

p.A98V

c.293C>T

1 paper

NM_014905.5

p.D107N

c.319G>A

3 papers

NM_014905.5

p.D107A

c.320A>C

1 paper

NM_014905.5

p.P109P

c.327C>A

1 paper

NM_014905.5

p.G110delFs

c.328delG

1 paper

NM_014905.5

p.S95A

c.283T>G