Varaico: Literature-Extracted Genetic Variants

Gene:RUFY1
Variant:p.E644K

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.E644K
c.1930G>A
Surrounding Variants
1 paper
NM_025158.5
p.K661_H662Splc
c.1984-824C>G
1 paper
NM_001040452.3
p.H555R
c.1664A>G
3 papers
NM_025158.5
p.S705A
c.2113T>G
1 paper
NM_025158.5
p.H616R
c.1847A>G
1 paper
NM_025158.5
p.G614G
c.1842C>T
1 paper
NM_025158.5
p.E604K
c.1810G>A
1 paper
NM_025158.5
p.E595K
c.1783G>A
1 paper
NM_025158.5
p.K587_E588Splc
c.1761+6G>A
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