Varaico: Literature-Extracted Genetic Variants

Gene:PDZD8
Variant:p.F511L

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
2 papers
NM_173791.5
p.F511L
c.1533C>G
Surrounding Variants
2 papers
NM_173791.5
p.F511L
c.1533C>A
2 papers
NM_173791.5
p.F511L
c.1531T>C
1 paper
NM_173791.5
p.I531V
c.1591A>G
1 paper
NM_173791.5
p.L485L
c.1453T>C
2 papers
NM_173791.5
p.A482T
c.1444G>A
1 paper
NM_173791.5
p.G477V
c.1430G>T
1 paper
NM_173791.5
p.L552L
c.1656A>C
2 papers
NM_173791.5
p.P566L
c.1697C>T
1 paper
NM_173791.5
p.L431*
c.1292T>A
1 paper
NM_173791.5
p.E620*
c.1858G>T
1 paper
NM_173791.5
p.P626S
c.1876C>T
1 paper
NM_173791.5
p.C717*
c.2151C>A
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