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

1–12 of 59 variants

3 papers

NM_016368.5

p.D391D

c.1173C>T

2 papers

NM_016368.5

p.D141D

c.423C>T

1 paper

NM_016368.5

p.M1V

c.1A>G

1 paper

NM_016368.5

p.A4G

c.11C>G

1 paper

NM_016368.5

p.A5V

c.14C>T

1 paper

NM_016368.5

p.F7L

c.21C>G

1 paper

NM_016368.5

p.S11C

c.31A>T

1 paper

NM_016368.5

p.V14M

c.40G>A

1 paper

NM_016368.5

p.A20T

c.58G>A

1 paper

NM_016368.5

p.E35K

c.103G>A

1 paper

NM_016368.5

p.G37C

c.109G>T

1 paper

NM_016368.5

p.R47H

c.140G>A