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

1 paper

NM_001166222.2

p.P640L

c.1919C>T

Surrounding Variants

1 paper

NM_001166222.2

p.H633Q

c.1899C>A

1 paper

NM_001166222.2

p.H633Q

c.1899C>G

1 paper

NM_001166222.2

p.A619S

c.1855G>T

2 papers

NM_001166222.2

p.E662*

c.1984G>T

1 paper

NM_001166222.2

p.A664V

c.1991C>T

1 paper

NM_001166222.2

p.G679R

c.2035G>A

1 paper

NM_001166222.2

p.G679R

c.2035G>C

1 paper

NM_001166222.2

p.Y596C

c.1787A>G

1 paper

NM_001166222.2

p.R686W

c.2056C>T

1 paper

NM_001166222.2

p.S699S

c.2097C>T

1 paper

NM_001166222.2

p.D710V

c.2129A>T

1 paper

NM_001166222.2

p.Q559*

c.1675C>T