Varaico: Literature-Extracted Genetic Variants

Gene:TTC28
Variant:p.Q513H

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.Q513H
c.1539G>C
Surrounding Variants
1 paper
NM_001145418.2
p.A504T
c.1510G>A
1 paper
NM_001145418.2
p.H537Y
c.1609C>T
1 paper
NM_001145418.2
p.H537L
c.1610A>T
3 papers
NM_001145418.2
p.G488S
c.1462G>A
1 paper
NM_001145418.2
p.R550C
c.1648C>T
1 paper
NM_001145418.2
p.R550H
c.1649G>A
1 paper
NM_001145418.2
p.R550delins
c.1649_1650delinsAT
1 paper
NM_001145418.2
p.V562M
c.1684G>A
1 paper
NM_001145418.2
p.D571H
c.1711G>C
1 paper
NM_001145418.2
p.P615L
c.1844C>T
1 paper
NM_001145418.2
p.R622W
c.1864C>T
1 paper
NM_001145418.2
p.Q651E
c.1951C>G
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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."