Varaico: Literature-Extracted Genetic Variants

Gene:RAB40AL
Variant:p.A217P

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.A217P
c.649G>C
Surrounding Variants
1 paper
NM_001031834.1
p.P215S
c.643C>T
1 paper
NM_001031834.1
p.S220N
c.659G>A
1 paper
NM_001031834.1
p.S224A
c.670T>G
2 papers
NM_001031834.1
p.V201M
c.601G>A
1 paper
NM_001031834.1
p.L239P
c.716T>C
1 paper
NM_001031834.1
p.T244A
c.730A>G
1 paper
NM_001031834.1
p.K250_R251del2
c.748_752del6
2 papers
NM_001031834.1
p.K250_R251del1
c.750_752delAAG
1 paper
NM_001031834.1
p.I259I
c.777C>T
1 paper
NM_001031834.1
p.C261insFs
c.782dupG
1 paper
NM_001031834.1
p.C261fs
c.781_782fs
1 paper
NM_001031834.1
p.I164R
c.491T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."