Varaico: Literature-Extracted Genetic Variants

Gene:TTC28
Variant:p.R2435H

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
3 papers
NM_001145418.2
p.R2435H
c.7304G>A
Surrounding Variants
1 paper
NM_001145418.2
p.E2437K
c.7309G>A
1 paper
NM_001145418.2
p.S2440P
c.7318T>C
1 paper
NM_001145418.2
p.S2440S
c.7320G>A
1 paper
NM_001145418.2
p.A2424G
c.7271C>G
1 paper
NM_001145418.2
p.G2449S
c.7345G>A
1 paper
NM_001145418.2
p.Q2419H
c.7257G>T
1 paper
NM_001145418.2
p.Q2419H
c.7257G>C
1 paper
NM_001145418.2
p.L2395L
c.7183T>C
1 paper
NM_001145418.2
p.F2476S
c.7427T>C
1 paper
NM_001145418.2
p.K2388E
c.7162A>G
1 paper
NM_001145418.2
p.T2384M
c.7151C>T
1 paper
NM_001145418.2
p.R2379L
c.7136G>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."