Varaico: Literature-Extracted Genetic Variants

Gene:VPS28
Variant:p.R144R

VPS28

34 papers

RefSeq Summary

This gene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This comple...

Pfam Domains

VPS28aa 39–219UCSCVPS28 protein

Gene Aliases

HGNC Name

VPS28 subunit of ESCRT-I

HGNC Alias Symbol

CIIA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016208.4
p.R144R
c.432T>C
Surrounding Variants
1 paper
NM_016208.4
p.I147F
c.439A>T
1 paper
NM_016208.4
p.K142E
c.424A>G
1 paper
NM_016208.4
p.E152_I153Splc
c.457-1G>C
1 paper
NM_016208.4
p.I153N
c.458T>A
2 papers
NM_016208.4
p.T179M
c.536C>T
1 paper
NM_016208.4
p.Q185L
c.554A>T
1 paper
NM_016208.4
p.N126H
c.376A>C
1 paper
NM_016208.4
p.P115L
c.344C>T
1 paper
NM_016208.4
p.A106V
c.317C>T
1 paper
NM_016208.4
p.R100H
c.299G>A
1 paper
NM_016208.4
p.Q85K
c.253C>A
1 paper
NM_016208.4
p.S71F
c.212C>T
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