Varaico: Literature-Extracted Genetic Variants

Gene:VPS52

VPS52

47 papers

RefSeq Summary

This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is i...

Pfam Domains

Vps52_CCaa 101–273UCSCVps52/Sac2 family, coiled-coil
Vps52_Caa 290–601UCSCVps52, C-terminal

Gene Aliases

HGNC Name

VPS52 subunit of GARP complex

HGNC Previous Symbol

SACM2L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
2 papers
NM_022553.6
p.Y508C
c.1523A>G
2 papers
NM_022553.6
p.R578W
c.1732C>T
2 papers
NM_022553.6
p.R662Q
c.1985G>A
1 paper
NM_022553.6
p.A5P
c.13G>C
1 paper
NM_022553.6
p.T6delFs
c.16_17delGT
1 paper
NM_022553.6
p.M7delFs
c.20_21delCA
1 paper
NM_022553.6
p.E13_L14ins3
c.39_40ins9
1 paper
NM_022553.6
p.L14L
c.40C>T
1 paper
NM_022553.6
p.L14_V15insFs
c.42_43insAT
1 paper
NM_022553.6
p.L16_R17del1
c.48_50delCGC
1 paper
NM_022553.6
p.L16_R17del2
c.46_50del6
1 paper
NM_022553.6
p.A18_G19delFs
c.54_55delCA
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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."