Varaico: Literature-Extracted Genetic Variants

Gene:TMEM247

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
1–12 of 80 variants
11 papers
NM_001424184.1
p.Q128E
c.382C>G
9 papers
NM_001424184.1
p.Q128ins13
c.382_383ins39
9 papers
NM_001424184.1
p.R129Q
c.386G>A
5 papers
NM_001424184.1
p.R142Q
c.425G>A
4 papers
NM_001424184.1
p.Q82*
c.244C>T
4 papers
NM_001424184.1
p.R142ins13
c.424_425ins39
3 papers
NM_001424184.1
p.A83V
c.248C>T
3 papers
NM_001424184.1
p.V134A
c.401T>C
3 papers
NM_001424184.1
p.Q153R
c.458A>G
3 papers
NM_001424184.1
p.E154K
c.460G>A
2 papers
NM_001424184.1
p.A14V
c.41C>T
2 papers
NM_001424184.1
p.T95A
c.283A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."