Varaico: Literature-Extracted Genetic Variants

Gene:TTC28
Variant:p.S2239N

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.S2239N
c.6716G>A
Surrounding Variants
1 paper
NM_001145418.2
p.P2236T
c.6706C>A
1 paper
NM_001145418.2
p.L2219L
c.6657C>T
1 paper
NM_001145418.2
p.I2259F
c.6775A>T
1 paper
NM_001145418.2
p.P2263L
c.6788C>T
1 paper
NM_001145418.2
p.A2213A
c.6639G>A
1 paper
NM_001145418.2
p.S2271L
c.6812C>T
1 paper
NM_001145418.2
p.A2199A
c.6597G>A
1 paper
NM_001145418.2
p.D2282A
c.6845A>C
1 paper
NM_001145418.2
p.E2194delFs
c.6582delT
1 paper
NM_001145418.2
p.K2189R
c.6566A>G
1 paper
NM_001145418.2
p.S2296N
c.6887G>A
1 paper
NM_001145418.2
p.R2179C
c.6535C>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."