Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.I91M

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.I91M
c.273T>G
Surrounding Variants
1 paper
NM_171998.4
p.I91I
c.273T>A
2 papers
NM_171998.4
p.L88del1
c.262_263delTAA
1 paper
NM_171998.4
p.F89_D90ins8
c.265_269ins24
1 paper
NM_171998.4
p.L86_L87del1
c.258_260delAGA
1 paper
NM_171998.4
p.S82_L86del5
c.244_257del15
1 paper
NM_171998.4
p.Q98H
c.294G>C
1 paper
NM_171998.4
p.R80R
c.240G>A
1 paper
NM_171998.4
p.W103*
c.309G>A
1 paper
NM_171998.4
p.A77T
c.229G>A
1 paper
NM_171998.4
p.R76P
c.227G>C
1 paper
NM_171998.4
p.S73F
c.218C>T
1 paper
NM_171998.4
p.R72I
c.215G>T
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."