Varaico: Literature-Extracted Genetic Variants

Gene:TMEM247
Variant:p.R6delFs

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.R6delFs
c.17_18delGG
Surrounding Variants
1 paper
NM_001424184.1
p.M8delFs
c.22delA
1 paper
NM_001424184.1
p.M1V
c.1A>G
1 paper
NM_001424184.1
p.A14delFs
c.41_42delCG
2 papers
NM_001424184.1
p.A14V
c.41C>T
1 paper
NM_001424184.1
p.E16Q
c.46G>C
1 paper
NM_001424184.1
p.S17_C18del2
c.49_53del6
1 paper
NM_001424184.1
p.P22del1
c.64_65delCCC
1 paper
NM_001424184.1
p.M24delFs
c.72delG
1 paper
NM_001424184.1
p.D28V
c.83A>T
1 paper
NM_001424184.1
p.L39_E40Splc
c.118-82G>A
1 paper
NM_001424184.1
p.A41_E42del2
c.121_125del6
1 paper
NM_001424184.1
p.A41G
c.122C>G
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