Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1

PTCHD1

92 papers

RefSeq Summary

This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which...

Pfam Domains

Patchedaa 271–427UCSCPatched SSD

Gene Aliases

HGNC Name

patched domain containing 1

HGNC Alias Symbols

SLC65C1; FLJ30296

Papers
RefSeq ID
Protein change
DNA change
1–12 of 149 variants
8 papers
NM_173495.3
p.I173V
c.517A>G
7 papers
NM_173495.3
p.P32R
c.95C>G
7 papers
NM_173495.3
p.L73F
c.217C>T
7 papers
NM_173495.3
p.K181T
c.542A>C
7 papers
NM_173495.3
p.V195I
c.583G>A
6 papers
NM_173495.3
p.S51N
c.152G>A
6 papers
NM_173495.3
p.G303R
c.907G>A
6 papers
NM_173495.3
p.G303R
c.907G>C
5 papers
NM_173495.3
p.G300R
c.898G>C
5 papers
NM_173495.3
p.H359R
c.1076A>G
5 papers
NM_173495.3
p.E479G
c.1436A>G
5 papers
NM_173495.3
p.F549C
c.1646T>G
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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."