Varaico: Literature-Extracted Genetic Variants

Gene:TTC34

TTC34

20 papers

Pfam Domains

TPR_8aa 178–211UCSCTetratricopeptide repeat
TPR_16aa 292–340UCSCTetratricopeptide repeat
TPR_16aa 310–375UCSCTetratricopeptide repeat
TPR_16aa 468–544UCSCTetratricopeptide repeat
TPR_16aa 823–888UCSCTetratricopeptide repeat
TPR_16aa 981–1055UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 34

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
1 paper
NM_001242672.3
p.A51S
c.151G>T
1 paper
NM_001242672.3
p.A81G
c.242C>G
1 paper
NM_001242672.3
p.V83I
c.247G>A
1 paper
NM_001242672.3
p.V173G
c.518T>G
1 paper
NM_001242672.3
p.Q192*
c.574C>T
1 paper
NM_001242672.3
p.G257S
c.769G>A
1 paper
NM_001242672.3
p.Q306Q
c.918G>A
1 paper
NM_001242672.3
p.A307S
c.919G>T
1 paper
NM_001242672.3
p.A319T
c.955G>A
1 paper
NM_001242672.3
p.A372A
c.1116G>A
1 paper
NM_001242672.3
p.L381M
c.1141C>A
1 paper
NM_001242672.3
p.R402H
c.1205G>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."