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

1–12 of 48 variants

2 papers

NM_014216.6

p.D295A

c.884A>C

1 paper

NM_014216.6

p.R32Splc

c.95+12570C>T

1 paper

NM_014216.6

p.R45Q

c.134G>A

1 paper

NM_014216.6

p.P46L

c.137C>T

1 paper

NM_014216.6

p.D62D

c.186C>T

1 paper

NM_014216.6

p.A67A

c.201C>T

1 paper

NM_014216.6

p.T102A

c.304A>G

1 paper

NM_014216.6

p.R106delFs

c.317delC

1 paper

NM_014216.6

p.I113fs

c.337_338fs

1 paper

NM_014216.6

p.I113_I116delFs

c.337_346del10

1 paper

NM_014216.6

p.D140E

c.420C>G

1 paper

NM_014216.6

p.D140E

c.420C>A