Varaico: Literature-Extracted Genetic Variants

Gene:TMEM247
Variant:p.R129Q

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
9 papers
NM_001424184.1
p.R129Q
c.386G>A
Surrounding Variants
4 papers
NM_001424184.1
p.R142ins13
c.424_425ins39
1 paper
NM_001424184.1
p.R129_Q130ins2
c.387_388ins6
1 paper
NM_001424184.1
p.R129fs
c.385_386fs
1 paper
NM_001424184.1
p.R142insFs
c.424_425ins38
1 paper
NM_001424184.1
p.Q130fs
c.388_389fs
1 paper
NM_001424184.1
p.Q128_E141insFs
c.384_421dup38
1 paper
NM_001424184.1
p.Q128ins13
c.382_383ins39
9 papers
NM_001424184.1
p.Q128ins13
c.382_383ins39
11 papers
NM_001424184.1
p.Q128E
c.382C>G
1 paper
NM_001424184.1
p.R127Q
c.380G>A
1 paper
NM_001424184.1
p.R127L
c.380G>T
1 paper
NM_001424184.1
p.E132K
c.394G>A
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