Varaico: Literature-Extracted Genetic Variants

Gene:RUFY1

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
1–12 of 45 variants
3 papers
NM_025158.5
p.S705A
c.2113T>G
2 papers
NM_025158.5
p.G159V
c.476G>T
2 papers
NM_025158.5
p.K218N
c.654G>C
2 papers
NM_025158.5
p.K218N
c.654G>T
2 papers
NM_025158.5
p.D293E
c.879T>A
2 papers
NM_025158.5
p.D293E
c.879T>G
1 paper
NM_025158.5
p.C8S
c.22T>A
1 paper
NM_025158.5
p.C8S
c.23G>C
1 paper
NM_025158.5
p.R14L
c.41G>T
1 paper
NM_025158.5
p.S28A
c.82T>G
1 paper
NM_025158.5
p.E35D
c.105G>C
1 paper
NM_025158.5
p.E35D
c.105G>T
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