Varaico: Literature-Extracted Genetic Variants

Gene:PITPNA
Variant:p.Y193H

PITPNA

25 papers

RefSeq Summary

This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phosphol...

Pfam Domains

IP_transaa 2–252UCSCPhosphatidylinositol transfer protein

Gene Aliases

HGNC Name

phosphatidylinositol transfer protein alpha

HGNC Previous Symbol

PITPN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006224.4
p.Y193H
c.577T>C
Surrounding Variants
1 paper
NM_006224.4
p.K199_F200del1
c.597_599delAAC
1 paper
NM_006224.4
p.F200del1
c.598_599delGAA
1 paper
NM_006224.4
p.E217Q
c.649G>C
1 paper
NM_006224.4
p.W231*
c.692G>A
1 paper
NM_006224.4
p.W231*
c.693G>A
1 paper
NM_006224.4
p.L232L
c.696C>T
1 paper
NM_006224.4
p.D242G
c.725A>G
2 papers
NM_006224.4
p.E248*
c.742G>T
1 paper
NM_006224.4
p.V125A
c.374T>C
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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."