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

2 papers

NM_001166222.2

p.R888C

c.2662C>T

Surrounding Variants

1 paper

NM_001166222.2

p.E880E

c.2640G>A

1 paper

NM_001166222.2

p.R879C

c.2635C>T

1 paper

NM_001166222.2

p.A877T

c.2629G>A

1 paper

NM_001166222.2

p.V866V

c.2598G>A

1 paper

NM_001166222.2

p.R856H

c.2567G>A

1 paper

NM_001166222.2

p.R856C

c.2566C>T

1 paper

NM_001166222.2

p.R852H

c.2555G>A

1 paper

NM_001166222.2

p.S947_H948delFs

c.2841_2842delTC

1 paper

NM_001166222.2

p.H948fs

c.2842_2843fs

1 paper

NM_001166222.2

p.I826T

c.2477T>C

1 paper

NM_001166222.2

p.F797delFs

c.2391delC

1 paper

NM_001166222.2

p.F797fs

c.2389_2390fs