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.W58S

c.173G>C

Surrounding Variants

1 paper

NM_014905.5

p.W57*

c.170G>A

1 paper

NM_014905.5

p.G61S

c.181G>A

2 papers

NM_014905.5

p.P56insFs

c.167_168insC

1 paper

NM_014905.5

p.G62G

c.186C>A

1 paper

NM_014905.5

p.L54F

c.160C>T

2 papers

NM_014905.5

p.R53Q

c.158G>A

1 paper

NM_014905.5

p.W63*

c.188G>A

1 paper

NM_014905.5

p.P64_G71del8

c.190_212del24

1 paper

NM_014905.5

p.P64Q

c.191C>A

1 paper

NM_014905.5

p.P64L

c.191C>T

1 paper

NM_014905.5

p.P64_A69delFs

c.192_205del14

1 paper

NM_014905.5

p.A51D

c.152C>A