Varaico: Literature-Extracted Genetic Variants

Gene:RUFY1
Variant:p.S28A

RUFY1

47 papers

RefSeq Summary

This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal traf...

Pfam Domains

RUNaa 147–270UCSCRUN domain
FYVEaa 638–701UCSCFYVE zinc finger

Gene Aliases

HGNC Name

RUN and FYVE domain containing 1

HGNC Alias Symbols

FLJ22251; ZFYVE12; RABIP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025158.5
p.S28A
c.82T>G
Surrounding Variants
1 paper
NM_025158.5
p.E35D
c.105G>C
1 paper
NM_025158.5
p.E35D
c.105G>T
1 paper
NM_025158.5
p.R14L
c.41G>T
1 paper
NM_025158.5
p.C8S
c.23G>C
1 paper
NM_025158.5
p.C8S
c.22T>A
1 paper
NM_025158.5
p.G48G
c.144C>G
1 paper
NM_025158.5
p.T68S
c.202A>T
1 paper
NM_025158.5
p.T68S
c.203C>G
1 paper
NM_025158.5
p.S78L
c.233C>T
1 paper
NM_025158.5
p.G82A
c.245G>C
1 paper
NM_025158.5
p.C107S
c.319T>A
1 paper
NM_025158.5
p.C107S
c.320G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."