Varaico: Literature-Extracted Genetic Variants

Gene:VPS45
Variant:p.E238K

VPS45

93 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 1–510UCSCSec1 family

Gene Aliases

HGNC Name

vacuolar protein sorting 45 homolog

HGNC Previous Symbols

VPS45B; VPS45A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_007259.5
p.E238K
c.712G>A
Surrounding Variants
1 paper
NM_007259.5
p.Y232fs
c.694_695fs
1 paper
NM_007259.5
p.Y232delFs
c.695_696delAT
1 paper
NM_007259.5
p.P253L
c.758C>T
1 paper
NM_007259.5
p.E267K
c.799G>A
1 paper
NM_007259.5
p.F271V
c.811T>G
1 paper
NM_007259.5
p.Q302L
c.905A>T
1 paper
NM_007259.5
p.L305V
c.913C>G
1 paper
NM_007259.5
p.S307L
c.920C>T
1 paper
NM_007259.5
p.G336E
c.1007G>A
1 paper
NM_007259.5
p.R345W
c.1033C>T
1 paper
NM_007259.5
p.E356K
c.1066G>A
18 papers
NM_007259.5
p.T224N
c.671C>A
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