Varaico: Literature-Extracted Genetic Variants

Gene:VPS9D1
Variant:p.P230L

VPS9D1

36 papers

Pfam Domains

VPS9aa 509–625UCSCVacuolar sorting protein 9 (VPS9) domain

Gene Aliases

HGNC Name

VPS9 domain containing 1

HGNC Alias Symbol

ATP-BL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004913.3
p.P230L
c.689C>T
Surrounding Variants
1 paper
NM_004913.3
p.D248H
c.742G>C
1 paper
NM_004913.3
p.H249R
c.746A>G
1 paper
NM_004913.3
p.H249H
c.747T>C
1 paper
NM_004913.3
p.N219D
c.655A>G
1 paper
NM_004913.3
p.M189K
c.566T>A
1 paper
NM_004913.3
p.K260N
c.780G>T
1 paper
NM_004913.3
p.K260N
c.780G>C
1 paper
NM_004913.3
p.R289G
c.865A>G
1 paper
NM_004913.3
p.R289T
c.866G>C
1 paper
NM_004913.3
p.R305T
c.914G>C
1 paper
NM_004913.3
p.R305S
c.915A>T
1 paper
NM_004913.3
p.R305S
c.915A>C
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