Varaico: Literature-Extracted Genetic Variants

Gene:TTC12
Variant:p.L482_A483Splc

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
2 papers
NM_017868.4
p.L482_A483Splc
c.1446+2T>C
Surrounding Variants
1 paper
NM_017868.4
p.F474L
c.1422T>A
1 paper
NM_017868.4
p.F474L
c.1422T>G
1 paper
NM_017868.4
p.F474L
c.1420T>C
1 paper
NM_017868.4
p.H467Y
c.1399C>T
1 paper
NM_017868.4
p.S443C
c.1327A>T
1 paper
NM_017868.4
p.G434A
c.1301G>C
1 paper
NM_017868.4
p.N424S
c.1271A>G
1 paper
NM_017868.4
p.A423T
c.1267G>A
1 paper
NM_017868.4
p.L413R
c.1238T>G
1 paper
NM_001318533.2
p.L413R
c.1238T>G
1 paper
NM_017868.4
p.T403S
c.1208C>G
1 paper
NM_017868.4
p.T403S
c.1207A>T
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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."