Varaico: Literature-Extracted Genetic Variants

Gene:RUFY3
Variant:p.D46E

RUFY3

40 papers

RefSeq Summary

This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell mi...

Pfam Domains

RUNaa 103–226UCSCRUN domain
RUNaa 103–226UCSCRUN domain
RUNaa 103–226UCSCRUN domain

Gene Aliases

HGNC Name

RUN and FYVE domain containing 3

HGNC Alias Symbols

RIPx; KIAA0871; Singar1; ZFYVE30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001037442.4
p.D46E
c.138T>G
Surrounding Variants
1 paper
NM_001037442.4
p.D46E
c.138T>A
1 paper
NM_001037442.4
p.D46delFs
c.138delT
1 paper
NM_001037442.4
p.D47fs
c.139_140fs
1 paper
NM_001037442.4
p.P52H
c.155C>A
1 paper
NM_001037442.4
p.L40ins4
c.118_119ins12
1 paper
NM_001037442.4
p.Y27_L28insFs
c.81_82insA
1 paper
NM_001037442.4
p.T5M
c.14C>T
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