Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.*214Q

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.*214Q
c.640T>C
Surrounding Variants
1 paper
NM_171998.4
p.R210del1
c.628_629delTCT
6 papers
NM_171998.4
p.E208_R209del1
c.624_626delCTC
1 paper
NM_171998.4
p.R209K
c.626G>A
1 paper
NM_171998.4
p.E208K
c.622G>A
1 paper
NM_171998.4
p.V198I
c.592G>A
2 papers
NM_171998.4
p.F193L
c.579T>G
2 papers
NM_171998.4
p.F193L
c.579T>A
2 papers
NM_171998.4
p.F193L
c.577T>C
36 papers
NM_171998.4
p.G192R
c.574G>C
38 papers
NM_171998.4
p.G192R
c.574G>A
5 papers
NM_171998.4
p.E187*
c.559G>T
14 papers
NM_171998.4
p.W186*
c.558G>A
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."