Varaico: Literature-Extracted Genetic Variants

Gene:PDZD8
Variant:p.N929T

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.N929T
c.2786A>C
Surrounding Variants
1 paper
NM_173791.5
p.R944C
c.2830C>T
1 paper
NM_173791.5
p.K903E
c.2707A>G
3 papers
NM_173791.5
p.R897Q
c.2690G>A
2 papers
NM_173791.5
p.E978K
c.2932G>A
1 paper
NM_173791.5
p.K878R
c.2633A>G
1 paper
NM_173791.5
p.T982M
c.2945C>T
1 paper
NM_173791.5
p.R993W
c.2977C>T
1 paper
NM_173791.5
p.R1003K
c.3008G>A
2 papers
NM_173791.5
p.N850K
c.2550C>G
2 papers
NM_173791.5
p.N850K
c.2550C>A
1 paper
NM_173791.5
p.E828K
c.2482G>A
1 paper
NM_173791.5
p.L817F
c.2451G>T
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