Varaico: Literature-Extracted Genetic Variants

Gene:PITPNC1

PITPNC1

20 papers

RefSeq Summary

This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by faci...

Pfam Domains

IP_transaa 1–243UCSCPhosphatidylinositol transfer protein

Gene Aliases

HGNC Name

phosphatidylinositol transfer protein cytoplasmic 1

HGNC Alias Symbols

RDGBB1; RDGBB; RDGB-BETA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
1 paper
NM_012417.4
p.L2Q
c.5T>A
1 paper
NM_012417.4
p.E5fs
c.13_14fs
1 paper
NM_012417.4
p.E16_Y17Splc
c.48+1G>A
1 paper
NM_012417.4
p.Y81C
c.242A>G
1 paper
NM_012417.4
p.Y89delFs
c.267delT
1 paper
NM_012417.4
p.I140fs
c.418_419fs
1 paper
NM_012417.4
p.I140insFs
c.418_419insTT
1 paper
NM_012417.4
p.R148H
c.443G>A
1 paper
NM_012417.4
p.R166W
c.496C>T
1 paper
NM_012417.4
p.Q168*
c.502C>T
1 paper
NM_012417.4
p.H177D
c.529C>G
1 paper
NM_012417.4
p.Q178*
c.532C>T
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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."