Varaico: Literature-Extracted Genetic Variants

Gene:RUSC2
Variant:p.R866L

RUSC2

83 papers

RefSeq Summary

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provide...

Pfam Domains

RUNaa 1039–1174UCSCRUN domain
SH3_2aa 1452–1503UCSCVariant SH3 domain

Gene Aliases

HGNC Name

RUN and SH3 domain containing 2

HGNC Alias Symbol

KIAA0375

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014806.5
p.R866L
c.2597G>T
Surrounding Variants
1 paper
NM_014806.5
p.R866*
c.2596C>T
1 paper
NM_014806.5
p.R872Q
c.2615G>A
1 paper
NM_014806.5
p.G852E
c.2555G>A
1 paper
NM_014806.5
p.R826Q
c.2477G>A
1 paper
NM_014806.5
p.P822S
c.2464C>T
2 papers
NM_014806.5
p.E806K
c.2416G>A
1 paper
NM_014806.5
p.R756G
c.2266C>G
1 paper
NM_014806.5
p.T754I
c.2261C>T
1 paper
NM_014806.5
p.A732D
c.2195C>A
1 paper
NM_014806.5
p.R922W
c.2764C>T
1 paper
NM_014806.5
p.R727C
c.2179C>T
1 paper
NM_014806.5
p.S723P
c.2167T>C
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