Varaico: Literature-Extracted Genetic Variants

Gene:RUSC2

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
1–12 of 91 variants
4 papers
NM_014806.5
p.R1104C
c.3310C>T
3 papers
NM_014806.5
p.T73A
c.217A>G
2 papers
NM_014806.5
p.S164I
c.491G>T
2 papers
NM_014806.5
p.S408S
c.1224A>T
2 papers
NM_014806.5
p.P654L
c.1961C>T
2 papers
NM_014806.5
p.E806K
c.2416G>A
2 papers
NM_014806.5
p.T968M
c.2903C>T
2 papers
NM_014806.5
p.G1079Splc
c.3235+2T>A
2 papers
NM_014806.5
p.A1224T
c.3670G>A
1 paper
NM_014806.5
p.M1K
c.2T>A
1 paper
NM_014806.5
p.P18L
c.53C>T
1 paper
NM_014806.5
p.Q61K
c.181C>A
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