Varaico: Literature-Extracted Genetic Variants

Gene:RUSC2
Variant:p.G1309delFs

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.G1309delFs
c.3925delG
Surrounding Variants
1 paper
NM_014806.5
p.G1309fs
c.3925_3926fs
1 paper
NM_014806.5
p.R1318*
c.3952C>T
1 paper
NM_014806.5
p.S1295R
c.3885C>A
1 paper
NM_014806.5
p.S1295R
c.3885C>G
1 paper
NM_014806.5
p.S1295R
c.3883A>C
1 paper
NM_014806.5
p.M1345V
c.4033A>G
1 paper
NM_014806.5
p.P1348L
c.4043C>T
1 paper
NM_014806.5
p.S1351F
c.4052C>T
1 paper
NM_014806.5
p.R1261T
c.3782G>C
1 paper
NM_014806.5
p.R1261M
c.3782G>T
1 paper
NM_014806.5
p.E1244K
c.3730G>A
1 paper
NM_014806.5
p.W1386*
c.4157G>A
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