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

1–12 of 302 variants

7 papers

NM_014905.5

p.R5P

c.14G>C

6 papers

NM_014905.5

p.L4L

c.12G>C

6 papers

NM_014905.5

p.S482C

c.1445C>G

5 papers

NM_014905.5

p.D232fs

c.694_695fs

4 papers

NM_014905.5

p.L4L

c.12G>A

4 papers

NM_014905.5

p.Q81*

c.241C>T

4 papers

NM_014905.5

p.R272K

c.815G>A

4 papers

NM_014905.5

p.Y414C

c.1241A>G

4 papers

NM_014905.5

p.H461L

c.1382A>T

3 papers

NM_014905.5

p.L68H

c.203T>A

3 papers

NM_014905.5

p.A101V

c.302C>T

3 papers

NM_014905.5

p.D107A

c.320A>C