Varaico: Literature-Extracted Genetic Variants

Gene:PDZD8
Variant:p.L4L

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.L4L
c.12G>A
Surrounding Variants
1 paper
NM_173791.5
p.M6L
c.16A>T
1 paper
NM_173791.5
p.M6L
c.16A>C
1 paper
NM_173791.5
p.I7T
c.20T>C
1 paper
NM_173791.5
p.Q30*
c.88C>T
1 paper
NM_173791.5
p.P34L
c.101C>T
1 paper
NM_173791.5
p.A39V
c.116C>T
2 papers
NM_173791.5
p.G42S
c.124G>A
1 paper
NM_173791.5
p.P74S
c.220C>T
1 paper
NM_173791.5
p.E85K
c.253G>A
1 paper
NM_173791.5
p.I102M
c.306C>G
1 paper
NM_173791.5
p.L105P
c.314T>C
1 paper
NM_173791.5
p.T115A
c.343A>G
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