Varaico: Literature-Extracted Genetic Variants

Gene:RUSC2
Variant:p.L231R

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.L231R
c.692T>G
Surrounding Variants
1 paper
NM_014806.5
p.Q227Q
c.681G>A
1 paper
NM_014806.5
p.R251H
c.752G>A
1 paper
NM_014806.5
p.E194D
c.582G>C
1 paper
NM_014806.5
p.E194D
c.582G>T
1 paper
NM_014806.5
p.T283A
c.847A>G
1 paper
NM_014806.5
p.S285G
c.853A>G
1 paper
NM_014806.5
p.E175K
c.523G>A
1 paper
NM_014806.5
p.M291L
c.871A>C
1 paper
NM_014806.5
p.M291L
c.871A>T
1 paper
NM_014806.5
p.R296C
c.886C>T
1 paper
NM_014806.5
p.S164N
c.491G>A
2 papers
NM_014806.5
p.S164I
c.491G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."