Varaico: Literature-Extracted Genetic Variants

Gene:RUFY4
Variant:p.I147S

RUFY4

34 papers

Pfam Domains

RUNaa 41–165UCSCRUN domain
RUFY4aa 418–508UCSCRUFY4-like domain

Gene Aliases

HGNC Name

RUN and FYVE domain containing 4

HGNC Alias Symbols

FLJ46536; ZFYVE31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198483.4
p.I147S
c.440T>G
Surrounding Variants
1 paper
NM_198483.4
p.R143C
c.427C>T
1 paper
NM_198483.4
p.A153V
c.458C>T
1 paper
NM_198483.4
p.Q165*
c.493C>T
1 paper
NM_198483.4
p.G112fs
c.334_335fs
1 paper
NM_198483.4
p.S183F
c.548C>T
1 paper
NM_198483.4
p.K193E
c.577A>G
1 paper
NM_198483.4
p.N194I
c.581A>T
1 paper
NM_198483.4
p.P198insFs
c.593dupC
1 paper
NM_198483.4
p.K200fs
c.598_599fs
1 paper
NM_198483.4
p.K200_I201Splc
c.600+1G>A
3 papers
NM_198483.4
p.R89H
c.266G>A
1 paper
NM_198483.4
p.R79Q
c.236G>A
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