Varaico: Literature-Extracted Genetic Variants

Gene:TTC28

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
1–12 of 190 variants
7 papers
NM_001145418.2
p.R21*
c.61C>T
4 papers
NM_001145418.2
p.T12A
c.34A>G
3 papers
NM_001145418.2
p.P26T
c.76C>A
3 papers
NM_001145418.2
p.G488S
c.1462G>A
3 papers
NM_001145418.2
p.E1054K
c.3160G>A
3 papers
NM_001145418.2
p.R2435H
c.7304G>A
2 papers
NM_001145418.2
p.Y1141C
c.3422A>G
2 papers
NM_001145418.2
p.R1348W
c.4042C>T
2 papers
NM_001145418.2
p.R1352C
c.4054C>T
2 papers
NM_001145418.2
p.N1354K
c.4062C>G
2 papers
NM_001145418.2
p.N1354K
c.4062C>A
2 papers
NM_001145418.2
p.R1419W
c.4255C>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."