Varaico: Literature-Extracted Genetic Variants

Gene:TTC39B
Variant:p.Q113R

TTC39B

22 papers

Pfam Domains

Iml2-TPR_39aa 13–463UCSCIml2/Tetratricopeptide repeat protein 39
Iml2-TPR_39aa 140–598UCSCIml2/Tetratricopeptide repeat protein 39
TPR_8aa 493–517UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 39B

HGNC Previous Symbol

C9orf52

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152574.3
p.Q113R
c.338A>G
Surrounding Variants
1 paper
NM_152574.3
p.T117T
c.351C>T
1 paper
NM_152574.3
p.L77L
c.231G>A
1 paper
NM_152574.3
p.E166K
c.496G>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."