Varaico: Literature-Extracted Genetic Variants

Gene:VPS54
Variant:p.L51F

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.L51F
c.153A>C
Surrounding Variants
1 paper
NM_016516.3
p.A54V
c.161C>T
1 paper
NM_016516.3
p.R63S
c.189A>T
1 paper
NM_016516.3
p.R63S
c.189A>C
1 paper
NM_016516.3
p.F98F
c.294T>C
2 papers
NM_016516.3
p.H116_F117delFs
c.346_349del4
1 paper
NM_016516.3
p.T118P
c.352A>C
3 papers
NM_016516.3
p.Y120*
c.360T>A
1 paper
NM_016516.3
p.S125C
c.374C>G
1 paper
NM_016516.3
p.Q126_R127Splc
c.378+1G>A
1 paper
NM_016516.3
p.T45_G46insFs
c.135_136insAC
1 paper
NM_016516.3
p.T45insFs
c.133_134insAA
1 paper
NM_016516.3
p.P44S
c.130C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."