Varaico: Literature-Extracted Genetic Variants

Gene:VPS54
Variant:p.D17E

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.D17E
c.51T>A
Surrounding Variants
1 paper
NM_016516.3
p.D17E
c.51T>G
1 paper
NM_016516.3
p.Q12E
c.34C>G
1 paper
NM_016516.3
p.E23D
c.69G>C
1 paper
NM_016516.3
p.P11L
c.32C>T
1 paper
NM_016516.3
p.P9L
c.26C>T
1 paper
NM_016516.3
p.S6R
c.18T>A
1 paper
NM_016516.3
p.R31*
c.91C>T
1 paper
NM_016516.3
p.M1T
c.2T>C
1 paper
NM_016516.3
p.P37S
c.109C>T
1 paper
NM_016516.3
p.P44S
c.130C>T
1 paper
NM_016516.3
p.T45insFs
c.133_134insAA
1 paper
NM_016516.3
p.T45_G46insFs
c.135_136insAC
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