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.L291L

c.873C>T

Surrounding Variants

1 paper

NM_016368.5

p.L291I

c.871C>A

1 paper

NM_016368.5

p.Q281E

c.841C>G

1 paper

NM_016368.5

p.S279A

c.835T>G

1 paper

NM_016368.5

p.K305*

c.913A>T

1 paper

NM_016368.5

p.N277S

c.830A>G

1 paper

NM_016368.5

p.N277D

c.829A>G

1 paper

NM_016368.5

p.L276F

c.826C>T

1 paper

NM_016368.5

p.G272V

c.815G>T

1 paper

NM_016368.5

p.V311V

c.933C>G

1 paper

NM_016368.5

p.G321S

c.961G>A

1 paper

NM_016368.5

p.P260P

c.780C>T

1 paper

NM_016368.5

p.K325insFs

c.973_974ins4