Varaico: Literature-Extracted Genetic Variants

Gene:TTC28
Variant:p.N1354K

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
2 papers
NM_001145418.2
p.N1354K
c.4062C>G
Surrounding Variants
2 papers
NM_001145418.2
p.N1354K
c.4062C>A
2 papers
NM_001145418.2
p.R1352C
c.4054C>T
1 paper
NM_001145418.2
p.R1351H
c.4052G>A
1 paper
NM_001145418.2
p.R1348L
c.4043G>T
2 papers
NM_001145418.2
p.R1348W
c.4042C>T
1 paper
NM_001145418.2
p.S1339L
c.4016C>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."