Varaico: Literature-Extracted Genetic Variants

Gene:RUFY1
Variant:p.S344*

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.S344*
c.1031C>A
Surrounding Variants
1 paper
NM_025158.5
p.S344*
c.1031C>G
1 paper
NM_025158.5
p.R349*
c.1045C>T
1 paper
NM_025158.5
p.E376K
c.1126G>A
1 paper
NM_025158.5
p.E376_I377Splc
c.1128+3G>A
1 paper
NM_025158.5
p.Q394R
c.1181A>G
1 paper
NM_025158.5
p.A451V
c.1352C>T
1 paper
NM_025158.5
p.Q479R
c.1436A>G
1 paper
NM_025158.5
p.N492K
c.1476C>A
1 paper
NM_025158.5
p.N492K
c.1476C>G
1 paper
NM_025158.5
p.L522M
c.1564C>A
1 paper
NM_025158.5
p.G531S
c.1591G>A
1 paper
NM_025158.5
p.K587_E588Splc
c.1761+6G>A
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