Varaico: Literature-Extracted Genetic Variants

Gene:TTC28
Variant:p.P1522P

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.P1522P
c.4566C>A
Surrounding Variants
2 papers
NM_001145418.2
p.S1506L
c.4517C>T
1 paper
NM_001145418.2
p.L1500P
c.4499T>C
1 paper
NM_001145418.2
p.A1546T
c.4636G>A
1 paper
NM_001145418.2
p.S1554S
c.4662G>A
1 paper
NM_001145418.2
p.F1573F
c.4719C>T
1 paper
NM_001145418.2
p.I1579N
c.4736T>A
1 paper
NM_001145418.2
p.S1629C
c.4886C>G
1 paper
NM_001145418.2
p.F1668L
c.5002T>C
1 paper
NM_001145418.2
p.F1668L
c.5004C>G
1 paper
NM_001145418.2
p.F1668L
c.5004C>A
1 paper
NM_001145418.2
p.G1687R
c.5059G>A
1 paper
NM_001145418.2
p.G1687E
c.5060G>A
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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."