Varaico: Literature-Extracted Genetic Variants

Gene:PORCN

PORCN

171 papers

RefSeq Summary

This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine prote...

Pfam Domains

MBOATaa 60–372UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

porcupine O-acyltransferase

HGNC Previous Symbol

DHOF

Papers
RefSeq ID
Protein change
DNA change
1–12 of 272 variants
17 papers
NM_203475.3
p.R365Q
c.1094G>A
16 papers
NM_203475.3
p.G168R
c.502G>A
15 papers
NM_203475.3
p.G168R
c.502G>C
14 papers
NM_203475.3
p.R124*
c.370C>T
12 papers
NM_203475.3
p.E300*
c.898G>T
12 papers
NM_203475.3
p.R365G
c.1093C>G
11 papers
NM_203475.3
p.G60R
c.178G>A
10 papers
NM_203475.3
p.G60R
c.178G>C
9 papers
NM_203475.3
p.R243*
c.727C>T
9 papers
NM_203475.3
p.A355_E361del0
c.1064_1081del18
8 papers
NM_203475.3
p.R95*
c.283C>T
8 papers
NM_203475.3
p.R396*
c.1186C>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."