Varaico: Literature-Extracted Genetic Variants

Gene:PDZK1IP1
Variant:p.L7L

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.L7L
c.21C>G
Surrounding Variants
1 paper
NM_005764.4
p.I8V
c.22A>G
1 paper
NM_005764.4
p.L6I
c.16C>A
1 paper
NM_005764.4
p.S2S
c.6G>A
1 paper
NM_005764.4
p.N26fs
c.76_77fs
1 paper
NM_005764.4
p.N26fs
c.76_77fs
1 paper
NM_005764.4
p.N26delFs
c.77delT
1 paper
NM_005764.4
p.M31I
c.93G>A
1 paper
NM_005764.4
p.V39L
c.115G>T
2 papers
NM_005764.4
p.V44I
c.130G>A
1 paper
NM_005764.4
p.V44D
c.131T>A
1 paper
NM_005764.4
p.F48C
c.143T>G
1 paper
NM_005764.4
p.N51H
c.151A>C
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