Varaico: Literature-Extracted Genetic Variants

Gene:RAB40AL

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
1–12 of 40 variants
9 papers
NM_001031834.1
p.D59G
c.176A>G
5 papers
NM_001031834.1
p.D59E
c.177C>A
2 papers
NM_001031834.1
p.D59delins
c.176_177delinsGA
2 papers
NM_001031834.1
p.D59E
c.177C>G
2 papers
NM_001031834.1
p.Q61*
c.181C>T
2 papers
NM_001031834.1
p.Q61L
c.182A>T
2 papers
NM_001031834.1
p.V201M
c.601G>A
2 papers
NM_001031834.1
p.K250_R251del1
c.750_752delAAG
1 paper
NM_001031834.1
p.P4P
c.12G>C
1 paper
NM_001031834.1
p.G5R
c.13G>C
1 paper
NM_001031834.1
p.D8A
c.23A>C
1 paper
NM_001031834.1
p.F13Y
c.38T>A
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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."