Varaico: Literature-Extracted Genetic Variants

Gene:RAB40AL
Variant:p.I164R

RAB40AL

67 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. Disruptions in this gene are associated with Duche...

Pfam Domains

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

Gene Aliases

HGNC Name

RAB40A like

HGNC Alias Symbols

RAR2; RLGP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001031834.1
p.I164R
c.491T>G
Surrounding Variants
1 paper
NM_001031834.1
p.I164fs
c.490_491fs
1 paper
NM_001031834.1
p.I164delFs
c.490_491delAT
1 paper
NM_001031834.1
p.F161I
c.481T>A
1 paper
NM_001031834.1
p.E154K
c.460G>A
1 paper
NM_001031834.1
p.G149G
c.447C>T
1 paper
NM_001031834.1
p.A145A
c.435C>T
2 papers
NM_001031834.1
p.V201M
c.601G>A
1 paper
NM_001031834.1
p.N126I
c.377A>T
1 paper
NM_001031834.1
p.P215S
c.643C>T
1 paper
NM_001031834.1
p.A217P
c.649G>C
1 paper
NM_001031834.1
p.S220N
c.659G>A
1 paper
NM_001031834.1
p.R107L
c.320G>T
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