Varaico: Literature-Extracted Genetic Variants

Gene:VPS54
Variant:p.T360A

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
3 papers
NM_016516.3
p.T360A
c.1078A>G
Surrounding Variants
3 papers
NM_016516.3
p.M353V
c.1057A>G
1 paper
NM_016516.3
p.R368K
c.1103G>A
2 papers
NM_016516.3
p.L346_L349del4
c.1036_1046del12
1 paper
NM_016516.3
p.E371D
c.1113A>T
1 paper
NM_016516.3
p.E371D
c.1113A>C
1 paper
NM_016516.3
p.D373G
c.1118A>G
1 paper
NM_016516.3
p.C374R
c.1120T>C
1 paper
NM_016516.3
p.Q375*
c.1123C>T
1 paper
NM_016516.3
p.G340R
c.1018G>A
1 paper
NM_016516.3
p.R337Q
c.1010G>A
1 paper
NM_016516.3
p.I383del1
c.1147_1149delTAT
1 paper
NM_016516.3
p.L385P
c.1154T>C
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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."