Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.V50delFs

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.V50delFs
c.149_150delCA
Surrounding Variants
1 paper
NM_171998.4
p.V50fs
c.148_149fs
1 paper
NM_171998.4
p.I52V
c.154A>G
1 paper
NM_171998.4
p.P54insFs
c.161dupC
3 papers
NM_171998.4
p.S47fs
c.139_140fs
9 papers
NM_171998.4
p.F46insFs
c.137dupT
1 paper
NM_171998.4
p.R57S
c.169C>A
2 papers
NM_171998.4
p.R57R
c.171C>A
1 paper
NM_171998.4
p.D44A
c.131A>C
1 paper
NM_171998.4
p.V43A
c.128T>C
1 paper
NM_171998.4
p.G42A
c.125G>C
2 papers
NM_171998.4
p.V41V
c.123G>T
1 paper
NM_171998.4
p.V41A
c.122T>C
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