Varaico: Literature-Extracted Genetic Variants

Gene:TTC12
Variant:p.Q34H

TTC12

65 papers

Pfam Domains

TPR_1aa 141–173UCSCTetratricopeptide repeat
TPR_8aa 174–207UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 12

HGNC Alias Symbols

FLJ13859; FLJ20535; TPARM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017868.4
p.Q34H
c.102A>C
Surrounding Variants
1 paper
NM_017868.4
p.Q34H
c.102A>T
1 paper
NM_017868.4
p.L39L
c.117G>A
1 paper
NM_017868.4
p.Q24insFs
c.70dupC
1 paper
NM_017868.4
p.D51N
c.151G>A
1 paper
NM_017868.4
p.R58W
c.172A>T
1 paper
NM_017868.4
p.T71T
c.213T>C
6 papers
NM_017868.4
p.M73L
c.217A>C
6 papers
NM_017868.4
p.M73L
c.217A>T
1 paper
NM_017868.4
p.A83V
c.248C>T
2 papers
NM_017868.4
p.R95*
c.283C>T
1 paper
NM_017868.4
p.D107A
c.320A>C
1 paper
NM_017868.4
p.Y122F
c.365A>T
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