Varaico: Literature-Extracted Genetic Variants

Gene:PDZD4

PDZD4

44 papers

Pfam Domains

PDZaa 130–212UCSCPDZ domain

Gene Aliases

HGNC Name

PDZ domain containing 4

HGNC Previous Symbol

PDZK4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
2 papers
NM_001303512.2
p.D127V
c.380A>T
2 papers
NM_001303512.2
p.P308L
c.923C>T
2 papers
NM_001303512.2
p.D326N
c.976G>A
2 papers
NM_001303512.2
p.L341R
c.1022T>G
1 paper
NM_001303512.2
p.M1V
c.1A>G
1 paper
NM_001303512.2
p.M1I
c.3G>A
1 paper
NM_001303512.2
p.N4_C6delFs
c.10_16del7
1 paper
NM_001303512.2
p.V8delFs
c.23delA
1 paper
NM_001303512.2
p.K10E
c.28A>G
1 paper
NM_001303512.2
p.E13D
c.39G>C
1 paper
NM_001303512.2
p.Q20_V21Splc
c.61-2A>G
1 paper
NM_001303512.2
p.V21L
c.61G>C
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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."