Varaico: Literature-Extracted Genetic Variants

Gene:TTC28
Variant:p.D1213G

TTC28

137 papers

Pfam Domains

TPR_12aa 311–386UCSCTetratricopeptide repeat
TPR_12aa 350–426UCSCTetratricopeptide repeat
TPR_12aa 472–546UCSCTetratricopeptide repeat
TPR_12aa 552–626UCSCTetratricopeptide repeat
TPR_12aa 636–706UCSCTetratricopeptide repeat
TPR_12aa 713–786UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 28

HGNC Alias Symbol

KIAA1043

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145418.2
p.D1213G
c.3638A>G
Surrounding Variants
1 paper
NM_001145418.2
p.P1216H
c.3647C>A
1 paper
NM_001145418.2
p.N1272T
c.3815A>C
1 paper
NM_001145418.2
p.E1301K
c.3901G>A
1 paper
NM_001145418.2
p.S1171T
c.3511T>A
1 paper
NM_001145418.2
p.R1151*
c.3451C>T
1 paper
NM_001145418.2
p.T1149A
c.3445A>G
2 papers
NM_001145418.2
p.Y1141C
c.3422A>G
1 paper
NM_001145418.2
p.H1138Y
c.3412C>T
1 paper
NM_001145418.2
p.E1135E
c.3405G>A
1 paper
NM_001145418.2
p.A1129V
c.3386C>T
1 paper
NM_001145418.2
p.R1120H
c.3359G>A
1 paper
NM_001145418.2
p.R1120C
c.3358C>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."