Varaico: Literature-Extracted Genetic Variants

Gene:TMEM30A

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
1–12 of 89 variants
4 papers
NM_018247.4
p.R138*
c.412C>T
4 papers
NM_018247.4
p.R307*
c.919C>T
2 papers
NM_018247.4
p.Q36*
c.106C>T
2 papers
NM_018247.4
p.C94R
c.280T>C
2 papers
NM_018247.4
p.C104*
c.312T>A
2 papers
NM_018247.4
p.Y134fs
c.400_401fs
2 papers
NM_018247.4
p.R226*
c.676C>T
2 papers
NM_018247.4
p.R290*
c.868C>T
2 papers
NM_018247.4
p.S316*
c.947C>G
2 papers
NM_018247.4
p.S316*
c.947C>A
1 paper
NM_018247.4
p.M1K
c.2T>A
1 paper
NM_018247.4
p.N6I
c.17A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."