Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.I182delFs

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.I182delFs
c.545delA
Surrounding Variants
3 papers
NM_171998.4
p.T181T
c.543A>G
2 papers
NM_171998.4
p.I180fs
c.538_539fs
1 paper
NM_171998.4
p.E179fs
c.535_536fs
10 papers
NM_171998.4
p.E179insFs
c.536dupA
1 paper
NM_171998.4
p.E179insFs
c.535dupG
21 papers
NM_171998.4
p.W186*
c.557G>A
1 paper
NM_171998.4
p.E179fs
c.535_536fs
14 papers
NM_171998.4
p.W186*
c.558G>A
5 papers
NM_171998.4
p.E187*
c.559G>T
1 paper
NM_171998.4
p.R177S
c.531G>T
1 paper
NM_171998.4
p.K176N
c.528A>T
36 papers
NM_171998.4
p.G192R
c.574G>C
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