Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.Y7*

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
8 papers
NM_171998.4
p.Y7*
c.21C>G
Surrounding Variants
9 papers
NM_171998.4
p.Y7*
c.21C>A
1 paper
NM_171998.4
p.R10Q
c.29G>A
1 paper
NM_171998.4
p.L11F
c.31C>T
1 paper
NM_171998.4
p.M1insFs
c.2dupT
1 paper
NM_171998.4
p.M1T
c.2T>C
1 paper
NM_171998.4
p.M1insFs
c.1_2insT
1 paper
NM_171998.4
p.G15R
c.43G>C
1 paper
NM_171998.4
p.I25M
c.75C>G
1 paper
NM_171998.4
p.F28fs
c.82_83fs
1 paper
NM_171998.4
p.F28_T29delFs
c.82_86del5
1 paper
NM_171998.4
p.E30fs
c.88_89fs
1 paper
NM_171998.4
p.E30insFs
c.89_90ins8
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."