Varaico: Literature-Extracted Genetic Variants

Gene:TTC28
Variant:p.R21*

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
7 papers
NM_001145418.2
p.R21*
c.61C>T
Surrounding Variants
1 paper
NM_001145418.2
p.A18G
c.53C>G
1 paper
NM_001145418.2
p.A18T
c.52G>A
3 papers
NM_001145418.2
p.P26T
c.76C>A
1 paper
NM_001145418.2
p.P26P
c.78A>C
4 papers
NM_001145418.2
p.T12A
c.34A>G
1 paper
NM_001145418.2
p.S32L
c.95C>T
1 paper
NM_001145418.2
p.P34L
c.101C>T
1 paper
NM_001145418.2
p.S4W
c.11C>G
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