Varaico: Literature-Extracted Genetic Variants

Gene:TTC39A
Variant:p.Q524fs

TTC39A

27 papers

Pfam Domains

Iml2-TPR_39aa 28–145UCSCIml2/Tetratricopeptide repeat protein 39
Iml2-TPR_39aa 29–146UCSCIml2/Tetratricopeptide repeat protein 39
Iml2-TPR_39aa 29–146UCSCIml2/Tetratricopeptide repeat protein 39
Iml2-TPR_39aa 171–518UCSCIml2/Tetratricopeptide repeat protein 39

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 39A

HGNC Previous Symbol

C1orf34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080494.3
p.Q524fs
c.1570_1571fs
Surrounding Variants
1 paper
NM_001297663.2
p.S567G
c.1699A>G
1 paper
NM_001297663.2
p.M571V
c.1711A>G
1 paper
NM_001297663.2
p.E468K
c.1402G>A
1 paper
NM_001297663.2
p.T398T
c.1194A>G
1 paper
NM_001297663.2
p.S395S
c.1185T>G
1 paper
NM_001297663.2
p.I391M
c.1173T>G
1 paper
NM_001297663.2
p.H370P
c.1109A>C
1 paper
NM_001297663.2
p.E368insFs
c.1103_1104insG
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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."