Varaico: Literature-Extracted Genetic Variants

Gene:PDZD4
Variant:p.D719V

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
Selected Variant
1 paper
NM_001303512.2
p.D719V
c.2156A>T
Surrounding Variants
1 paper
NM_001303512.2
p.L729fs
c.2185_2186fs
1 paper
NM_001303512.2
p.A728delFs
c.2184delG
1 paper
NM_001303512.2
p.K736R
c.2207A>G
1 paper
NM_001303512.2
p.K736N
c.2208G>T
1 paper
NM_001303512.2
p.K736N
c.2208G>C
NM_032512.5
p.K730N
c.2190G>C
1 paper
NM_001303512.2
p.R695L
c.2084G>T
1 paper
NM_001303512.2
p.V642_V647delFs
c.1926_1941del16
1 paper
NM_001303512.2
p.A620V
c.1859C>T
1 paper
NM_001303512.2
p.G611R
c.1831G>C
1 paper
NM_001303512.2
p.A610T
c.1828G>A
1 paper
NM_001303512.2
p.E601G
c.1802A>G
1 paper
NM_001303512.2
p.R538G
c.1612C>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."