Varaico: Literature-Extracted Genetic Variants

Gene:RUSC2
Variant:p.R1015W

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.R1015W
c.3043C>T
Surrounding Variants
1 paper
NM_014806.5
p.A1009T
c.3025G>A
1 paper
NM_014806.5
p.N1031S
c.3092A>G
2 papers
NM_014806.5
p.G1079Splc
c.3235+2T>A
1 paper
NM_014806.5
p.L1085L
c.3253C>T
4 papers
NM_014806.5
p.R1104C
c.3310C>T
1 paper
NM_014806.5
p.L1113I
c.3337C>A
1 paper
NM_014806.5
p.R1116Q
c.3347G>A
1 paper
NM_014806.5
p.F1122C
c.3365T>G
1 paper
NM_014806.5
p.A973G
c.2918C>G
2 papers
NM_014806.5
p.T968M
c.2903C>T
1 paper
NM_014806.5
p.P953L
c.2858C>T
1 paper
NM_014806.5
p.G948D
c.2843G>A
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