Varaico: Literature-Extracted Genetic Variants

ISYNA1

98 papers

RefSeq Summary

This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-ph...

Pfam Domains

NAD_binding_5aa 59–491UCSCMyo-inositol-1-phosphate synthase

Inos-1-P_synthaa 307–420UCSCMyo-inositol-1-phosphate synthase

Gene Aliases

HGNC Name

inositol-3-phosphate synthase 1

HGNC Alias Symbols

Ino1; INOS; IPS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_016368.5

p.D391D

c.1173C>T

Surrounding Variants

1 paper

NM_016368.5

p.R394C

c.1180C>T

1 paper

NM_016368.5

p.G374G

c.1122C>T

1 paper

NM_016368.5

p.Q365K

c.1093C>A

1 paper

NM_016368.5

p.S420S

c.1260G>A

1 paper

NM_016368.5

p.K356K

c.1068G>A

1 paper

NM_016368.5

p.L343L

c.1029A>G

1 paper

NM_016368.5

p.V330V

c.990G>A

1 paper

NM_016368.5

p.L460F

c.1378C>T

1 paper

NM_016368.5

p.F464L

c.1392C>G

1 paper

NM_016368.5

p.N477S

c.1430A>G

1 paper

NM_016368.5

p.R481H

c.1442G>A

1 paper

NM_016368.5

p.K325insFs

c.973_974ins4