Varaico: Literature-Extracted Genetic Variants

Gene:RUFY1
Variant:p.K218N

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
2 papers
NM_025158.5
p.K218N
c.654G>T
Surrounding Variants
2 papers
NM_025158.5
p.K218N
c.654G>C
1 paper
NM_025158.5
p.R208L
c.623G>T
1 paper
NM_025158.5
p.V261I
c.781G>A
1 paper
NM_025158.5
p.D263N
c.787G>A
2 papers
NM_025158.5
p.G159V
c.476G>T
1 paper
NM_001040451.3
p.Q39L
c.116A>T
1 paper
NM_025158.5
p.M120V
c.358A>G
1 paper
NM_025158.5
p.C107S
c.320G>C
1 paper
NM_025158.5
p.C107S
c.319T>A
1 paper
NM_025158.5
p.D293N
c.877G>A
2 papers
NM_025158.5
p.D293E
c.879T>A
2 papers
NM_025158.5
p.D293E
c.879T>G
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