Varaico: Literature-Extracted Genetic Variants

Gene:RAB40AL
Variant:p.P4P

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.P4P
c.12G>C
Surrounding Variants
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
1 paper
NM_001031834.1
p.R23_S28delins
c.69_84delinsCGACGTGGGCAAGGGC
1 paper
NM_001031834.1
p.S28G
c.82A>G
1 paper
NM_001031834.1
p.T38A
c.112A>G
1 paper
NM_001031834.1
p.T38M
c.113C>T
1 paper
NM_001031834.1
p.E40K
c.118G>A
1 paper
NM_001031834.1
p.T54A
c.160A>G
1 paper
NM_001031834.1
p.I56M
c.168C>G
9 papers
NM_001031834.1
p.D59G
c.176A>G
2 papers
NM_001031834.1
p.D59delins
c.176_177delinsGA
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."