Varaico: Literature-Extracted Genetic Variants

Gene:VPS37A
Variant:p.I80V

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
Selected Variant
1 paper
NM_152415.3
p.I80V
c.238A>G
Surrounding Variants
1 paper
NM_152415.3
p.I67M
c.201A>G
1 paper
NM_152415.3
p.G95A
c.284G>C
1 paper
NM_152415.3
p.V96A
c.287T>C
1 paper
NM_152415.3
p.K114I
c.341A>T
1 paper
NM_152415.3
p.I67M
c.201A>G
1 paper
NM_152415.3
p.I65F
c.193A>T
1 paper
NM_152415.3
p.L140L
c.418C>T
1 paper
NM_152415.3
p.S142G
c.424A>G
1 paper
NM_152415.3
p.P149L
c.446C>T
1 paper
NM_152415.3
p.T188A
c.562A>G
2 papers
NM_152415.3
p.A189V
c.566C>T
1 paper
NM_152415.3
p.P191S
c.571C>T
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