Varaico: Literature-Extracted Genetic Variants

Gene:TMEM247
Variant:p.L92P

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.L92P
c.275T>C
Surrounding Variants
2 papers
NM_001424184.1
p.T95A
c.283A>G
1 paper
NM_001424184.1
p.R100_N101ins7
c.298_302ins21
1 paper
NM_001424184.1
p.G84S
c.250G>A
3 papers
NM_001424184.1
p.A83V
c.248C>T
1 paper
NM_001424184.1
p.P102S
c.304C>T
4 papers
NM_001424184.1
p.Q82*
c.244C>T
1 paper
NM_001424184.1
p.R77H
c.230G>A
1 paper
NM_001424184.1
p.K74delFs
c.220delA
1 paper
NM_001424184.1
p.S72del1
c.214_215delTCC
1 paper
NM_001424184.1
p.K69R
c.206A>G
1 paper
NM_001424184.1
p.G66R
c.196G>A
1 paper
NM_001424184.1
p.G66R
c.196G>C
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