Varaico: Literature-Extracted Genetic Variants

Gene:RAB40A
Variant:p.K250ins1

RAB40A

25 papers

RefSeq Summary

This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010].

Pfam Domains

Rasaa 16–176UCSCRas family
SOCS_boxaa 188–223UCSCSOCS box

Gene Aliases

HGNC Name

RAB40A, member RAS oncogene family

HGNC Alias Symbols

RAR2A; Rar-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_080879.3
p.K250ins1
c.749_750insAAG
Surrounding Variants
1 paper
NM_080879.3
p.K250fs
c.748_749fs
1 paper
NM_080879.3
p.S247P
c.739T>C
1 paper
NM_080879.3
p.E257K
c.769G>A
1 paper
NM_080879.3
p.Y241*
c.723C>G
1 paper
NM_080879.3
p.Y241*
c.723C>A
1 paper
NM_080879.3
p.Q263H
c.789G>T
1 paper
NM_080879.3
p.Q263H
c.789G>C
1 paper
NM_080879.3
p.R237*
c.709C>T
1 paper
NM_080879.3
p.A233D
c.698C>A
1 paper
NM_080879.3
p.L231Q
c.692T>A
1 paper
NM_080879.3
p.S191G
c.571A>G
1 paper
NM_080879.3
p.E169D
c.507G>T
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