Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.Q68_R72delFs

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.Q68_R72delFs
c.204_214del11
Surrounding Variants
1 paper
NM_171998.4
p.R72I
c.215G>T
9 papers
NM_171998.4
p.R72Splc
c.215+1G>A
1 paper
NM_171998.4
p.R72Splc
c.215+3G>A
3 papers
NM_171998.4
p.Q68L
c.203A>T
1 paper
NM_171998.4
p.Q68*
c.202C>T
1 paper
NM_171998.4
p.G67G
c.201T>A
1 paper
NM_171998.4
p.G67V
c.200G>T
1 paper
NM_171998.4
p.W63*
c.188G>A
1 paper
NM_171998.4
p.I62V
c.184A>G
2 papers
NM_171998.4
p.R72Splc
c.215+39C>G
2 papers
NM_171998.4
p.R57R
c.171C>A
1 paper
NM_171998.4
p.R57S
c.169C>A
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