Varaico: Literature-Extracted Genetic Variants

Gene:TMEM30A
Variant:p.Y134fs

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.Y134fs
c.400_401fs
Surrounding Variants
1 paper
NM_018247.4
p.Y134insFs
c.401dupA
4 papers
NM_018247.4
p.R138*
c.412C>T
1 paper
NM_018247.4
p.S125C
c.374C>G
1 paper
NM_018247.4
p.S125T
c.373T>A
1 paper
NM_018247.4
p.S125fs
c.373_374fs
1 paper
NM_018247.4
p.L124P
c.371T>C
1 paper
NM_018247.4
p.L151_N152Splc
c.453+1G>C
1 paper
NM_018247.4
p.E115_G116Splc
c.345+1G>C
2 papers
NM_018247.4
p.C104*
c.312T>A
1 paper
NM_018247.4
p.C104S
c.311G>C
1 paper
NM_018247.4
p.C104S
c.310T>A
1 paper
NM_018247.4
p.C102Y
c.305G>A
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