Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.I171K

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.I171K
c.512T>A
Surrounding Variants
1 paper
NM_171998.4
p.D170N
c.508G>A
31 papers
NM_171998.4
p.T168K
c.503C>A
1 paper
NM_171998.4
p.K176N
c.528A>T
1 paper
NM_171998.4
p.R177S
c.531G>T
1 paper
NM_171998.4
p.E179fs
c.535_536fs
1 paper
NM_171998.4
p.E179insFs
c.535dupG
1 paper
NM_171998.4
p.E179fs
c.535_536fs
10 papers
NM_171998.4
p.E179insFs
c.536dupA
2 papers
NM_171998.4
p.I180fs
c.538_539fs
3 papers
NM_171998.4
p.T181T
c.543A>G
1 paper
NM_171998.4
p.I182delFs
c.545delA
1 paper
NM_171998.4
p.I158T
c.473T>C
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