Varaico: Literature-Extracted Genetic Variants

Gene:RAB40A
Variant:p.D59E

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
1 paper
NM_080879.3
p.D59E
c.177C>G
Surrounding Variants
1 paper
NM_080879.3
p.D59E
c.177C>A
1 paper
NM_080879.3
p.D59G
c.176A>G
1 paper
NM_080879.3
p.S71L
c.212C>T
1 paper
NM_080879.3
p.S71del1
c.211_212delCGA
1 paper
NM_080879.3
p.G47R
c.139G>C
2 papers
NM_080879.3
p.H45L
c.134A>T
3 papers
NM_080879.3
p.P42L
c.125C>T
1 paper
NM_080879.3
p.R85C
c.253C>T
1 paper
NM_080879.3
p.R107L
c.320G>T
1 paper
NM_080879.3
p.V124G
c.371T>G
1 paper
NM_080879.3
p.A145A
c.435C>T
2 papers
NM_080879.3
p.N162S
c.485A>G
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