Varaico: Literature-Extracted Genetic Variants

Gene:VPS37C
Variant:p.Q184P

VPS37C

35 papers

RefSeq Summary

VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane pr...

Pfam Domains

Mod_raa 5–150UCSCModifier of rudimentary (Mod(r)) protein

Gene Aliases

HGNC Name

VPS37C subunit of ESCRT-I

HGNC Alias Symbol

FLJ20847

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017966.5
p.Q184P
c.551A>C
Surrounding Variants
4 papers
NM_017966.5
p.V182D
c.545T>A
2 papers
NM_017966.5
p.L198S
c.593T>C
1 paper
NM_017966.5
p.A170T
c.508G>A
1 paper
NM_017966.5
p.K159R
c.476A>G
1 paper
NM_017966.5
p.L223V
c.667C>G
3 papers
NM_017966.5
p.S143F
c.428C>T
1 paper
NM_017966.5
p.G254C
c.760G>T
1 paper
NM_017966.5
p.S261A
c.781T>G
1 paper
NM_017966.5
p.R269W
c.805C>T
1 paper
NM_017966.5
p.R290M
c.869G>T
1 paper
NM_017966.5
p.G295D
c.884G>A
1 paper
NM_017966.5
p.P341S
c.1021C>T
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