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

1 paper

NM_016368.5

p.Q188R

c.563A>G

Surrounding Variants

1 paper

NM_016368.5

p.S177A

c.529T>G

1 paper

NM_016368.5

p.R200P

c.599G>C

1 paper

NM_016368.5

p.R175R

c.525G>A

1 paper

NM_016368.5

p.R175Q

c.524G>A

1 paper

NM_016368.5

p.R153G

c.457C>G

1 paper

NM_016368.5

p.R152Q

c.455G>A

1 paper

NM_016368.5

p.A148T

c.442G>A

1 paper

NM_016368.5

p.I142M

c.426C>G

2 papers

NM_016368.5

p.D141D

c.423C>T

1 paper

NM_016368.5

p.A131V

c.392C>T

1 paper

NM_016368.5

p.E115K

c.343G>A

1 paper

NM_016368.5

p.A229T

c.685G>A