Varaico: Literature-Extracted Genetic Variants

Gene:PIP4P1
Variant:p.V100V

PIP4P1

24 papers

RefSeq Summary

TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008].

Pfam Domains

Tmemb_55Aaa 4–270UCSCTransmembrane protein 55A

Gene Aliases

HGNC Name

phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1

HGNC Previous Symbol

TMEM55B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001100814.3
p.V100V
c.300G>A
Surrounding Variants
1 paper
NM_144568.4
p.M97L
c.289A>C
1 paper
NM_144568.4
p.V102V
c.306C>T
2 papers
NM_144568.4
p.K103E
c.307A>G
1 paper
NM_144568.4
p.T72I
c.215C>T
1 paper
NM_144568.4
p.T72A
c.214A>G
1 paper
NM_144568.4
p.P66A
c.196C>G
1 paper
NM_144568.4
p.L131L
c.393T>A
2 papers
NM_001100814.3
p.C140S
c.418T>A
NM_144568.4
p.C133S
c.397T>A
2 papers
NM_001100814.3
p.C140S
c.419G>C
NM_144568.4
p.C133S
c.398G>C
1 paper
NM_001100814.3
p.C140W
c.420C>G
1 paper
NM_144568.4
p.A47T
c.139G>A
1 paper
NM_144568.4
p.A42T
c.124G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."