Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1B
Variant:p.K210R

PIP5K1B

51 papers

Pfam Domains

PIP5Kaa 108–394UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 5-kinase type 1 beta

HGNC Alias Symbols

STM7; MSS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003558.4
p.K210R
c.629A>G
Surrounding Variants
2 papers
NM_003558.4
p.T208M
c.623C>T
1 paper
NM_003558.4
p.F200del1
c.598_599delTTT
1 paper
NM_003558.4
p.D227G
c.680A>G
1 paper
NM_003558.4
p.E236K
c.706G>A
1 paper
NM_003558.4
p.Y245F
c.734A>T
1 paper
NM_003558.4
p.A247V
c.740C>T
1 paper
NM_003558.4
p.N158D
c.472A>G
1 paper
NM_003558.4
p.T139fs
c.415_416fs
1 paper
NM_003558.4
p.T139S
c.415A>T
1 paper
NM_003558.4
p.S131G
c.391A>G
1 paper
NM_003558.4
p.V129M
c.385G>A
1 paper
NM_003558.4
p.V129fs
c.385_386fs
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