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.T763M

c.2288C>T

Surrounding Variants

1 paper

NM_001166222.2

p.G742W

c.2224G>T

1 paper

NM_001166222.2

p.R785C

c.2353C>T

1 paper

NM_001166222.2

p.F797fs

c.2389_2390fs

1 paper

NM_001166222.2

p.F797delFs

c.2391delC

1 paper

NM_001166222.2

p.D710V

c.2129A>T

1 paper

NM_001166222.2

p.I826T

c.2477T>C

1 paper

NM_001166222.2

p.S699S

c.2097C>T

1 paper

NM_001166222.2

p.R686W

c.2056C>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.R852H

c.2555G>A

1 paper

NM_001166222.2

p.R856C

c.2566C>T