Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE27
Variant:p.E144K

ZFYVE27

77 papers

RefSeq Summary

This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in t...

Pfam Domains

FYVEaa 340–411UCSCFYVE zinc finger

Gene Aliases

HGNC Name

zinc finger FYVE-type containing 27

HGNC Alias Symbols

FLJ32919; SPG33

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001385875.1
p.E144K
c.430G>A
Surrounding Variants
1 paper
NM_001385875.1
p.A145V
c.434C>T
1 paper
NM_001385875.1
p.R142C
c.424C>T
1 paper
NM_001385875.1
p.G138V
c.413G>T
1 paper
NM_001385875.1
p.H128R
c.383A>G
1 paper
NM_001385875.1
p.Y127N
c.379T>A
2 papers
NM_001385875.1
p.R114W
c.340C>T
1 paper
NM_001385875.1
p.Q110*
c.328C>T
1 paper
NM_001385875.1
p.M99L
c.295A>T
1 paper
NM_001385875.1
p.N88fs
c.262_263fs
2 papers
NM_001385875.1
p.L87_N88delFs
c.260_263del4
1 paper
NM_001385875.1
p.T86N
c.257C>A
3 papers
NM_001385875.1
p.V82I
c.244G>A
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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."