Varaico: Literature-Extracted Genetic Variants

Gene:VPS52
Variant:p.Y508C

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
Selected Variant
2 papers
NM_022553.6
p.Y508C
c.1523A>G
Surrounding Variants
1 paper
NM_022553.6
p.R498C
c.1492C>T
1 paper
NM_022553.6
p.L484L
c.1450C>T
1 paper
NM_022553.6
p.P478L
c.1433C>T
1 paper
NM_022553.6
p.R511C
c.1531C>T
1 paper
NM_022553.6
p.T526R
c.1577C>G
1 paper
NM_022553.6
p.G537E
c.1610G>A
1 paper
NM_022553.6
p.D461N
c.1381G>A
1 paper
NM_022553.6
p.S432F
c.1295C>T
1 paper
NM_022553.6
p.R549L
c.1646G>T
1 paper
NM_022553.6
p.E553A
c.1658A>C
1 paper
NM_022553.6
p.D569E
c.1707C>G
1 paper
NM_022553.6
p.D569E
c.1707C>A
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