Varaico: Literature-Extracted Genetic Variants

Gene:RUSC2
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_014806.5
p.P18L
c.53C>T
1 paper
NM_014806.5
p.Q61K
c.181C>A
1 paper
NM_014806.5
p.Q61L
c.182A>T
3 papers
NM_014806.5
p.T73A
c.217A>G
1 paper
NM_014806.5
p.Q106_E107insFs
c.318_319dupGG
1 paper
NM_014806.5
p.E111*
c.331G>T
1 paper
NM_014806.5
p.D124N
c.370G>A
1 paper
NM_014806.5
p.H142R
c.425A>G
1 paper
NM_014806.5
p.S164N
c.491G>A
2 papers
NM_014806.5
p.S164I
c.491G>T
1 paper
NM_014806.5
p.E175K
c.523G>A
1 paper
NM_014806.5
p.E194D
c.582G>C
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