Varaico: Literature-Extracted Genetic Variants

Gene:TMEM30A
Variant:p.Y299N

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
1 paper
NM_018247.4
p.Y299N
c.895T>A
Surrounding Variants
1 paper
NM_018247.4
p.D305H
c.913G>C
1 paper
NM_018247.4
p.D305E
c.915T>A
1 paper
NM_018247.4
p.G306E
c.917G>A
4 papers
NM_018247.4
p.R307*
c.919C>T
1 paper
NM_018247.4
p.K308E
c.922A>G
1 paper
NM_018247.4
p.R309W
c.925C>T
1 paper
NM_018247.4
p.K308delFs
c.924delT
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.W317*
c.950G>A
1 paper
NM_018247.4
p.W317*
c.951G>A
1 paper
NM_018247.4
p.G319R
c.955G>A
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