Varaico: Literature-Extracted Genetic Variants

Gene:PDZK1IP1
Variant:p.P59L

PDZK1IP1

15 papers

Pfam Domains

MAP17aa 1–114UCSCMembrane-associated protein 117 kDa, PDZK1-interacting protein 1

Gene Aliases

HGNC Name

PDZK1 interacting protein 1

HGNC Alias Symbols

DD96; MAP17; SPAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005764.4
p.P59L
c.176C>T
Surrounding Variants
1 paper
NM_005764.4
p.G69E
c.206G>A
1 paper
NM_005764.4
p.V77L
c.229G>C
1 paper
NM_005764.4
p.S89N
c.266G>A
1 paper
NM_005764.4
p.R91S
c.273G>T
1 paper
NM_005764.4
p.R91S
c.273G>C
1 paper
NM_005764.4
p.S92P
c.274T>C
1 paper
NM_005764.4
p.H95N
c.283C>A
1 paper
NM_005764.4
p.A98_Y99insFs
c.294_295insTT
1 paper
NM_005764.4
p.A98A
c.294C>A
1 paper
NM_005764.4
p.N101K
c.303T>G
1 paper
NM_005764.4
p.N101K
c.303T>A
1 paper
NM_005764.4
p.E105K
c.313G>A
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