Varaico: Literature-Extracted Genetic Variants

Gene:ITPKC
Variant:p.L444P

ITPKC

59 papers

RefSeq Summary

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphat...

Pfam Domains

IPKaa 467–592UCSCInositol polyphosphate kinase
IPKaa 587–654UCSCInositol polyphosphate kinase

Gene Aliases

HGNC Name

inositol-trisphosphate 3-kinase C

HGNC Alias Symbols

IP3KC; IP3-3KC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025194.3
p.L444P
c.1331T>C
Surrounding Variants
1 paper
NM_025194.3
p.R439H
c.1316G>A
1 paper
NM_025194.3
p.R450Q
c.1349G>A
1 paper
NM_025194.3
p.R432H
c.1295G>A
2 papers
NM_025194.3
p.G458V
c.1373G>T
1 paper
NM_025194.3
p.R428W
c.1282C>T
1 paper
NM_025194.3
p.L461L
c.1383G>T
1 paper
NM_025194.3
p.Q422L
c.1265A>T
1 paper
NM_025194.3
p.A475T
c.1423G>A
1 paper
NM_025194.3
p.P410S
c.1228C>T
1 paper
NM_025194.3
p.T491S
c.1471A>T
1 paper
NM_025194.3
p.T491S
c.1472C>G
1 paper
NM_025194.3
p.P506T
c.1516C>A
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