Varaico: Literature-Extracted Genetic Variants

Gene:PIP4P2
Variant:p.Y28H

PIP4P2

16 papers

RefSeq Summary

TMEM55A 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 6–250UCSCTransmembrane protein 55A

Gene Aliases

HGNC Name

phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2

HGNC Previous Symbol

TMEM55A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018710.3
p.Y28H
c.82T>C
Surrounding Variants
1 paper
NM_018710.3
p.P34L
c.101C>T
1 paper
NM_018710.3
p.G19E
c.56G>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."