Varaico: Literature-Extracted Genetic Variants

Gene:PDZD8
Variant:p.D1100E

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.D1100E
c.3300T>A
Surrounding Variants
1 paper
NM_173791.5
p.D1100E
c.3300T>G
1 paper
NM_173791.5
p.L1089F
c.3265C>T
1 paper
NM_173791.5
p.S1113S
c.3339C>A
1 paper
NM_173791.5
p.R1083S
c.3249G>C
2 papers
NM_173791.5
p.G1081D
c.3242G>A
1 paper
NM_173791.5
p.T1123R
c.3368C>G
1 paper
NM_173791.5
p.E1125del1
c.3373_3374delTTC
1 paper
NM_173791.5
p.D1128H
c.3382G>C
1 paper
NM_173791.5
p.K1070fs
c.3208_3209fs
1 paper
NM_173791.5
p.Q1049*
c.3145C>T
1 paper
NM_173791.5
p.R1003K
c.3008G>A
1 paper
NM_173791.5
p.R993W
c.2977C>T
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