Varaico: Literature-Extracted Genetic Variants

Gene:PITPNB

PITPNB

12 papers

RefSeq Summary

This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retr...

Pfam Domains

IP_transaa 2–252UCSCPhosphatidylinositol transfer protein

Gene Aliases

HGNC Name

phosphatidylinositol transfer protein beta

HGNC Alias Symbol

VIB1B

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_012399.5
p.S14Y
c.41C>A
1 paper
NM_012399.5
p.V20D
c.59T>A
1 paper
NM_012399.5
p.P47fs
c.139_140fs
1 paper
NM_012399.5
p.I109M
c.327T>G
1 paper
NM_012399.5
p.W114*
c.341G>A
1 paper
NM_012399.5
p.W114*
c.342G>A
1 paper
NM_012399.5
p.G120V
c.359G>T
1 paper
NM_012399.5
p.A182V
c.545C>T
1 paper
NM_012399.5
p.I232fs
c.694_695fs
1 paper
NM_012399.5
p.R258C
c.772C>T
1 paper
NM_012399.5
p.R258H
c.773G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."