Varaico: Literature-Extracted Genetic Variants

Gene:TTC34
Variant:p.L381M

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
Selected Variant
1 paper
NM_001242672.3
p.L381M
c.1141C>A
Surrounding Variants
1 paper
NM_001242672.3
p.A372A
c.1116G>A
1 paper
NM_001242672.3
p.R402H
c.1205G>A
1 paper
NM_001242672.3
p.A319T
c.955G>A
1 paper
NM_001242672.3
p.A307S
c.919G>T
1 paper
NM_001242672.3
p.Q306Q
c.918G>A
1 paper
NM_001242672.3
p.C480F
c.1439G>T
1 paper
NM_001242672.3
p.E486K
c.1456G>A
1 paper
NM_001242672.3
p.R508Q
c.1523G>A
1 paper
NM_001242672.3
p.E542K
c.1624G>A
1 paper
NM_001242672.3
p.V620M
c.1858G>A
1 paper
NM_001242672.3
p.V638I
c.1912G>A
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