Varaico: Literature-Extracted Genetic Variants

Gene:VPS33B
Variant:p.K480delFs

VPS33B

164 papers

RefSeq Summary

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sort...

Pfam Domains

Sec1aa 37–611UCSCSec1 family

Gene Aliases

HGNC Name

VPS33B late endosome and lysosome associated

HGNC Alias Symbol

FLJ14848

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018668.5
p.K480delFs
c.1440delC
Surrounding Variants
1 paper
NM_018668.5
p.R481fs
c.1441_1442fs
1 paper
NM_018668.5
p.A474P
c.1420G>C
1 paper
NM_018668.5
p.N492insFs
c.1474dupA
3 papers
NM_018668.5
p.G469Splc
c.1406-1G>C
3 papers
NM_018668.5
p.G469Splc
c.1406-2A>G
2 papers
NM_018668.5
p.A440_G449del10
c.1318_1346del30
3 papers
NM_018668.5
p.N436_E445del10
c.1306_1334del30
11 papers
NM_018668.5
p.R438*
c.1312C>T
1 paper
NM_018668.5
p.N436S
c.1307A>G
2 papers
NM_018668.5
p.S425N
c.1274G>A
1 paper
NM_018668.5
p.L493_I494Splc
c.1480-2A>G
3 papers
NM_018668.5
p.E500*
c.1498G>T
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