Varaico: Literature-Extracted Genetic Variants

Gene:PDZD8
Variant:p.S733_L734delFs

PDZD8

74 papers

Pfam Domains

PDZD8_Naa 93–291UCSCPDZD8 N-terminal TULIPs domain
PDZ_6aa 395–445UCSCPDZ domain
C1_1aa 841–890UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

PDZ domain containing 8

HGNC Previous Symbol

PDZK8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173791.5
p.S733_L734delFs
c.2197_2200del4
Surrounding Variants
1 paper
NM_173791.5
p.C717*
c.2151C>A
1 paper
NM_173791.5
p.R768G
c.2302A>G
1 paper
NM_173791.5
p.R772H
c.2315G>A
1 paper
NM_173791.5
p.G779R
c.2335G>C
1 paper
NM_173791.5
p.G779R
c.2335G>A
1 paper
NM_173791.5
p.E810K
c.2428G>A
1 paper
NM_173791.5
p.H816Y
c.2446C>T
1 paper
NM_173791.5
p.L817F
c.2451G>T
1 paper
NM_173791.5
p.L817F
c.2451G>C
1 paper
NM_173791.5
p.E828K
c.2482G>A
1 paper
NM_173791.5
p.P626S
c.1876C>T
1 paper
NM_173791.5
p.E620*
c.1858G>T
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