Varaico: Literature-Extracted Genetic Variants

Gene:VPS37A
Variant:p.L298I

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
2 papers
NM_152415.3
p.L298I
c.892T>A
Surrounding Variants
1 paper
NM_152415.3
p.D299Y
c.895G>T
1 paper
NM_152415.3
p.T310I
c.929C>T
1 paper
NM_152415.3
p.F311F
c.933C>T
1 paper
NM_152415.3
p.E278E
c.834A>G
1 paper
NM_152415.3
p.K263Q
c.787A>C
3 papers
NM_152415.3
p.L234I
c.700C>A
1 paper
NM_152415.3
p.A341T
c.1021G>A
1 paper
NM_152415.3
p.D351D
c.1053C>T
2 papers
NM_152415.3
p.P214L
c.641C>T
1 paper
NM_152415.3
p.P207L
c.620C>T
1 paper
NM_152415.3
p.A193T
c.577G>A
1 paper
NM_152415.3
p.P191S
c.571C>T
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