Varaico: Literature-Extracted Genetic Variants

Gene:RUSC2
Variant:p.R497H

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.R497H
c.1490G>A
Surrounding Variants
1 paper
NM_014806.5
p.V509L
c.1525G>C
1 paper
NM_014806.5
p.M517T
c.1550T>C
1 paper
NM_014806.5
p.R523C
c.1567C>T
1 paper
NM_014806.5
p.A470V
c.1409C>T
1 paper
NM_014806.5
p.G432_D436del0
c.1295_1306del12
1 paper
NM_014806.5
p.T418S
c.1253C>G
1 paper
NM_014806.5
p.T418S
c.1252A>T
1 paper
NM_014806.5
p.R583W
c.1747C>T
2 papers
NM_014806.5
p.S408S
c.1224A>T
1 paper
NM_014806.5
p.P598Q
c.1793C>A
1 paper
NM_014806.5
p.L609F
c.1825C>T
1 paper
NM_014806.5
p.G610G
c.1830C>A
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