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.R337_A346del10

c.1009_1037del30

Surrounding Variants

1 paper

NM_014216.6

p.G347S

c.1039G>A

1 paper

NM_014216.6

p.G347D

c.1040G>A

1 paper

NM_014216.6

p.R353W

c.1057C>T

1 paper

NM_014216.6

p.S358R

c.1072A>C

1 paper

NM_014216.6

p.S358R

c.1074C>G

1 paper

NM_014216.6

p.S358R

c.1074C>A

1 paper

NM_014216.6

p.M327V

c.979A>G

1 paper

NM_014216.6

p.A326S

c.976G>T

1 paper

NM_014216.6

p.P371S

c.1111C>T

1 paper

NM_014216.6

p.A317del1

c.949_950delGGC

1 paper

NM_014216.6

p.A317delFs

c.949_950delGC

1 paper

NM_014216.6

p.A382T

c.1144G>A