Varaico: Literature-Extracted Genetic Variants

Gene:TTC28
Variant:p.R876W

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.R876W
c.2626A>T
Surrounding Variants
1 paper
NM_001145418.2
p.D875N
c.2623G>A
1 paper
NM_001145418.2
p.A879S
c.2635G>T
1 paper
NM_001145418.2
p.G884G
c.2652G>T
1 paper
NM_001145418.2
p.Q865E
c.2593C>G
1 paper
NM_001145418.2
p.Q859*
c.2575C>T
1 paper
NM_001145418.2
p.Y856C
c.2567A>G
1 paper
NM_001145418.2
p.A896T
c.2686G>A
1 paper
NM_001145418.2
p.I854T
c.2561T>C
1 paper
NM_001145418.2
p.G841V
c.2522G>T
1 paper
NM_001145418.2
p.M840V
c.2518A>G
1 paper
NM_001145418.2
p.D822N
c.2464G>A
1 paper
NM_001145418.2
p.K727fs
c.2179_2180fs
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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."