Varaico: Literature-Extracted Genetic Variants

Gene:TMEM247
Variant:p.E141delFs

TMEM247

72 papers

Pfam Domains

TMEM247aa 1–141UCSCTransmembrane protein 247
TMEM247aa 139–219UCSCTransmembrane protein 247

Gene Aliases

HGNC Name

transmembrane protein 247

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001424184.1
p.E141delFs
c.421delG
Surrounding Variants
1 paper
NM_001424184.1
p.E141fs
c.421_422fs
1 paper
NM_001424184.1
p.R142insFs
c.424_425ins14
1 paper
NM_001424184.1
p.R142fs
c.424_425fs
5 papers
NM_001424184.1
p.R142Q
c.425G>A
1 paper
NM_001424184.1
p.M135T
c.404T>C
3 papers
NM_001424184.1
p.V134A
c.401T>C
1 paper
NM_001424184.1
p.E132K
c.394G>A
1 paper
NM_001424184.1
p.Q153ins5
c.457_458ins15
1 paper
NM_001424184.1
p.M148delFs
c.444delG
1 paper
NM_001424184.1
p.Q130fs
c.388_389fs
1 paper
NM_001424184.1
p.R142insFs
c.424_425ins38
9 papers
NM_001424184.1
p.R129Q
c.386G>A
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