Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD4
Variant:p.R22_S26del5

PTCHD4

22 papers

Pfam Domains

Patchedaa 232–305UCSCPatched SSD

Gene Aliases

HGNC Name

patched domain containing 4

HGNC Previous Symbol

C6orf138

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384253.1
p.R22_S26del5
c.64_77del15
Surrounding Variants
1 paper
NM_001384253.1
p.W13*
c.39G>A
1 paper
NM_001384253.1
p.W13*
c.38G>A
1 paper
NM_001384253.1
p.A8_S9delFs
c.22_26del5
1 paper
NM_001384253.1
p.S56S
c.168C>T
1 paper
NM_001384253.1
p.S74S
c.222C>T
1 paper
NM_001384253.1
p.S76R
c.226A>C
1 paper
NM_001384253.1
p.L91L
c.271C>T
1 paper
NM_001384253.1
p.N120H
c.358A>C
1 paper
NM_001384253.1
p.T131T
c.393C>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."