Varaico: Literature-Extracted Genetic Variants

Gene:VPS54
Variant:p.L905L

VPS54

91 papers

RefSeq Summary

This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compart...

Pfam Domains

Vps54_Naa 198–364UCSCVacuolar-sorting protein 54, of GARP complex
Vps54aa 736–868UCSCVps54-like protein

Gene Aliases

HGNC Name

VPS54 subunit of GARP complex

HGNC Alias Symbols

HCC8; PPP1R164

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016516.3
p.L905L
c.2715T>G
Surrounding Variants
2 papers
NM_016516.3
p.E899K
c.2695G>A
1 paper
NM_016516.3
p.M897fs
c.2689_2690fs
1 paper
NM_016516.3
p.F887insFs
c.2660_2661insC
3 papers
NM_016516.3
p.M912I
c.2736G>T
3 papers
NM_016516.3
p.M912I
c.2736G>C
3 papers
NM_016516.3
p.M912I
c.2736G>A
1 paper
NM_016516.3
p.I917T
c.2750T>C
1 paper
NM_016516.3
p.A919P
c.2755G>C
1 paper
NM_016516.3
p.L925S
c.2774T>C
1 paper
NM_016516.3
p.Q928H
c.2784G>T
1 paper
NM_016516.3
p.Q928H
c.2784G>C
1 paper
NM_016516.3
p.D964H
c.2890G>C
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