Varaico: Literature-Extracted Genetic Variants

Gene:VPS54
Variant:p.Y212Y

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
2 papers
NM_016516.3
p.Y212Y
c.636T>C
Surrounding Variants
1 paper
NM_016516.3
p.I215V
c.643A>G
1 paper
NM_016516.3
p.E217K
c.649G>A
1 paper
NM_016516.3
p.I220V
c.658A>G
1 paper
NM_016516.3
p.A221V
c.662C>T
1 paper
NM_016516.3
p.Q223*
c.667C>T
1 paper
NM_016516.3
p.A234G
c.701C>G
1 paper
NM_016516.3
p.A234insFs
c.701dupC
1 paper
NM_016516.3
p.L278V
c.832C>G
1 paper
NM_016516.3
p.P301L
c.902C>T
1 paper
NM_016516.3
p.A315T
c.943G>A
1 paper
NM_016516.3
p.Q327E
c.979C>G
1 paper
NM_016516.3
p.Q331K
c.991C>A
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