Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.E30insFs

RAB39B

157 papers

RefSeq Summary

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disab...

Pfam Domains

Rasaa 10–173UCSCRas family

Gene Aliases

HGNC Name

RAB39B, member RAS oncogene family

HGNC Previous Symbols

MRX72; WSN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_171998.4
p.E30insFs
c.89_90ins8
Surrounding Variants
1 paper
NM_171998.4
p.E30fs
c.88_89fs
1 paper
NM_171998.4
p.F28_T29delFs
c.82_86del5
1 paper
NM_171998.4
p.R32S
c.94C>A
1 paper
NM_171998.4
p.F28fs
c.82_83fs
1 paper
NM_171998.4
p.I25M
c.75C>G
1 paper
NM_171998.4
p.V36fs
c.106_107fs
1 paper
NM_171998.4
p.D38A
c.113A>C
1 paper
NM_171998.4
p.P39insFs
c.117dupC
1 paper
NM_171998.4
p.V41A
c.122T>C
2 papers
NM_171998.4
p.V41V
c.123G>T
1 paper
NM_171998.4
p.G42A
c.125G>C
1 paper
NM_171998.4
p.V43A
c.128T>C
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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."