Varaico: Literature-Extracted Genetic Variants

Gene:TTC39A
Variant:p.N179S

TTC39A

27 papers

Pfam Domains

Iml2-TPR_39aa 28–145UCSCIml2/Tetratricopeptide repeat protein 39
Iml2-TPR_39aa 29–146UCSCIml2/Tetratricopeptide repeat protein 39
Iml2-TPR_39aa 29–146UCSCIml2/Tetratricopeptide repeat protein 39
Iml2-TPR_39aa 171–518UCSCIml2/Tetratricopeptide repeat protein 39

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 39A

HGNC Previous Symbol

C1orf34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001297663.2
p.N179S
c.536A>G
Surrounding Variants
1 paper
NM_001297663.2
p.H182R
c.545A>G
1 paper
NM_001297663.2
p.Y220*
c.660T>G
1 paper
NM_001297663.2
p.Y220*
c.660T>A
1 paper
NM_001297663.2
p.G221A
c.662G>C
1 paper
NM_001297663.2
p.C239Y
c.716G>A
1 paper
NM_001297663.2
p.L244_C245del2
c.730_734del6
1 paper
NM_001297663.2
p.V253_L254del2
c.757_761del6
1 paper
NM_001297663.2
p.N294K
c.882C>A
1 paper
NM_001297663.2
p.A297_A298Splc
c.891+106C>G
1 paper
NM_001297663.2
p.R300W
c.898C>T
1 paper
NM_001297663.2
p.W333*
c.998G>A
1 paper
NM_001297663.2
p.V108V
c.324G>A
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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."