Varaico: Literature-Extracted Genetic Variants

Gene:VPS37A

VPS37A

44 papers

RefSeq Summary

This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembr...

Pfam Domains

Mod_raa 235–380UCSCModifier of rudimentary (Mod(r)) protein

Gene Aliases

HGNC Name

VPS37A subunit of ESCRT-I

HGNC Previous Symbol

PQBP2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
3 papers
NM_152415.3
p.L234I
c.700C>A
3 papers
NM_152415.3
p.H390Y
c.1168C>T
2 papers
NM_152415.3
p.A189V
c.566C>T
2 papers
NM_152415.3
p.P214L
c.641C>T
2 papers
NM_152415.3
p.L298I
c.892T>A
2 papers
NM_152415.3
p.K382N
c.1146A>C
2 papers
NM_152415.3
p.K382N
c.1146A>T
1 paper
NM_152415.3
p.S10R
c.28A>C
1 paper
NM_152415.3
p.S10R
c.30C>A
1 paper
NM_152415.3
p.S10R
c.30C>G
1 paper
NM_152415.3
p.R37W
c.109C>T
1 paper
NM_152415.3
p.I65F
c.193A>T
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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."