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.K94_E95Splc

c.283-213G>A

Surrounding Variants

1 paper

NM_016368.5

p.S101S

c.303G>C

1 paper

NM_016368.5

p.S101S

c.303G>A

1 paper

NM_016368.5

p.E115K

c.343G>A

1 paper

NM_016368.5

p.G92S

c.274G>A

1 paper

NM_016368.5

p.R84C

c.250C>T

1 paper

NM_016368.5

p.A131V

c.392C>T

1 paper

NM_016368.5

p.A77V

c.230C>T

1 paper

NM_016368.5

p.G67G

c.201C>T

1 paper

NM_016368.5

p.P57L

c.170C>T

1 paper

NM_016368.5

p.F50F

c.150C>T

1 paper

NM_016368.5

p.R47H

c.140G>A

2 papers

NM_016368.5

p.D141D

c.423C>T