Varaico: Literature-Extracted Genetic Variants

Gene:PIP4P1
Variant:p.I243_A246delFs

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_144568.4
p.I243_A246delFs
c.727_737del11
Surrounding Variants
1 paper
NM_144568.4
p.G241R
c.721G>C
1 paper
NM_144568.4
p.G241R
c.721G>A
1 paper
NM_144568.4
p.H236_R239delFs
c.706_716del11
1 paper
NM_144568.4
p.H236fs
c.706_707fs
1 paper
NM_144568.4
p.H236Y
c.706C>T
3 papers
NM_001100814.3
p.L236F
c.706C>T
NM_144568.4
p.L229F
c.685C>T
1 paper
NM_144568.4
p.A226P
c.676G>C
1 paper
NM_001100814.3
p.L229F
c.687G>T
1 paper
NM_001100814.3
p.L229F
c.687G>C
1 paper
NM_144568.4
p.I213I
c.639C>A
1 paper
NM_144568.4
p.I173V
c.517A>G
1 paper
NM_001100814.3
p.C140W
c.420C>G
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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."