Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.K124delFs

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.K124delFs
c.371delT
Surrounding Variants
1 paper
NM_171998.4
p.K124N
c.372G>T
1 paper
NM_171998.4
p.K124insFs
c.371dupA
1 paper
NM_171998.4
p.C125fs
c.373_374fs
1 paper
NM_171998.4
p.K124R
c.371A>G
2 papers
NM_171998.4
p.K124fs
c.370_371fs
1 paper
NM_171998.4
p.G122insFs
c.366dupT
1 paper
NM_171998.4
p.H123fs
c.367_368fs
1 paper
NM_171998.4
p.Q115*
c.343C>T
1 paper
NM_171998.4
p.R135S
c.403C>A
1 paper
NM_171998.4
p.A142V
c.425C>T
6 papers
NM_171998.4
p.A143G
c.428C>G
1 paper
NM_171998.4
p.A144V
c.431C>T
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