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

1–12 of 73 variants

3 papers

NM_001166222.2

p.R297Q

c.890G>A

2 papers

NM_001166222.2

p.R90H

c.269G>A

2 papers

NM_001166222.2

p.E662*

c.1984G>T

2 papers

NM_001166222.2

p.R888C

c.2662C>T

1 paper

NM_001166222.2

p.M1_L2Splc

c.3+424G>A

1 paper

NM_001166222.2

p.M1_L2Splc

c.4-2A>G

1 paper

NM_001166222.2

p.P33L

c.98C>T

1 paper

NM_001166222.2

p.P34L

c.101C>T

1 paper

NM_001166222.2

p.G36delFs

c.107delG

1 paper

NM_001166222.2

p.P39S

c.115C>T

1 paper

NM_001166222.2

p.D45A

c.134A>C

1 paper

NM_001166222.2

p.K51M

c.152A>T