Varaico: Literature-Extracted Genetic Variants

Gene:VPS54
Variant:p.E128_K129delFs

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.E128_K129delFs
c.382_385del4
Surrounding Variants
1 paper
NM_016516.3
p.I130L
c.388A>C
1 paper
NM_016516.3
p.E128fs
c.382_383fs
1 paper
NM_016516.3
p.R146G
c.436A>G
3 papers
NM_016516.3
p.T147I
c.440C>T
1 paper
NM_016516.3
p.L148P
c.443T>C
2 papers
NM_016516.3
p.L149delFs
c.445_446delAA
1 paper
NM_016516.3
p.H150R
c.449A>G
1 paper
NM_016516.3
p.T151I
c.452C>T
1 paper
NM_016516.3
p.H152L
c.455A>T
1 paper
NM_016516.3
p.M167V
c.499A>G
1 paper
NM_016516.3
p.A200A
c.600T>C
1 paper
NM_016516.3
p.Q126_R127Splc
c.378+1G>A
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