Varaico: Literature-Extracted Genetic Variants

Gene:TMEM30A
Variant:p.R226*

TMEM30A

54 papers

Pfam Domains

CDC50aa 68–353UCSCLEM3 (ligand-effect modulator 3) family / CDC50 family

Gene Aliases

HGNC Name

transmembrane protein 30A

HGNC Previous Symbol

C6orf67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018247.4
p.R226*
c.676C>T
Surrounding Variants
1 paper
NM_018247.4
p.D221H
c.661G>C
1 paper
NM_018247.4
p.P218T
c.652C>A
1 paper
NM_018247.4
p.D209_K210delFs
c.627_628delTA
1 paper
NM_018247.4
p.W207*
c.621G>A
1 paper
NM_018247.4
p.W207*
c.620G>A
1 paper
NM_018247.4
p.W206*
c.618G>A
1 paper
NM_018247.4
p.W206*
c.617G>A
1 paper
NM_018247.4
p.Y193*
c.579T>G
1 paper
NM_018247.4
p.Y193*
c.579T>A
1 paper
NM_018247.4
p.D191_Y193delFs
c.573_577del5
1 paper
NM_018247.4
p.D191E
c.573T>G
1 paper
NM_018247.4
p.D191E
c.573T>A
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