Varaico: Literature-Extracted Genetic Variants

ITPK1

52 papers

RefSeq Summary

This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentak...

Pfam Domains

Ins134_P3_kin_Naa 9–100UCSCInositol 1,3,4-trisphosphate 5/6-kinase pre-ATP-grasp domain

Ins134_P3_kinaa 119–318UCSCInositol 1,3,4-trisphosphate 5/6-kinase ATP-grasp domain

Gene Aliases

HGNC Name

inositol-tetrakisphosphate 1-kinase

HGNC Previous Name

inositol 1,3,4-triphosphate 5/6 kinase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014216.6

p.P257R

c.770C>G

Surrounding Variants

1 paper

NM_014216.6

p.D259E

c.777C>G

1 paper

NM_014216.6

p.D259E

c.777C>A

1 paper

NM_014216.6

p.E260K

c.778G>A

1 paper

NM_014216.6

p.S266S

c.798C>T

1 paper

NM_014216.6

p.A272E

c.815C>A

1 paper

NM_014216.6

p.L273L

c.817C>T

2 papers

NM_014216.6

p.D295A

c.884A>C

1 paper

NM_014216.6

p.V305M

c.913G>A

1 paper

NM_014216.6

p.E307K

c.919G>A

1 paper

NM_014216.6

p.A317delFs

c.949_950delGC

1 paper

NM_014216.6

p.A317del1

c.949_950delGGC

1 paper

NM_014216.6

p.A326S

c.976G>T