Varaico: Literature-Extracted Genetic Variants

CARNS1

51 papers

RefSeq Summary

CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found ma...

Pfam Domains

ATPgrasp_Naa 410–492UCSCATP-grasp N-terminal domain

ATPgrasp_Teraa 596–732UCSCATP-grasp in the biosynthetic pathway with Ter operon

Gene Aliases

HGNC Name

carnosine synthase 1

HGNC Previous Symbol

ATPGD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001166222.2

p.R297Q

c.890G>A

Surrounding Variants

1 paper

NM_001166222.2

p.V285I

c.853G>A

1 paper

NM_001166222.2

p.V312L

c.934G>C

1 paper

NM_001166222.2

p.V312L

c.934G>T

1 paper

NM_001166222.2

p.P335L

c.1004C>T

1 paper

NM_001166222.2

p.P336L

c.1007C>T

1 paper

NM_001166222.2

p.R275H

c.824G>A

1 paper

NM_001166222.2

p.E260G

c.779A>G

1 paper

NM_001166222.2

p.G245E

c.734G>A

1 paper

NM_001166222.2

p.V228G

c.683T>G

1 paper

NM_001166222.2

p.R213Q

c.638G>A

1 paper

NM_001166222.2

p.R213W

c.637C>T

1 paper

NM_001166222.2

p.G201E

c.602G>A