Varaico: Literature-Extracted Genetic Variants

Gene:TTC1
Variant:p.Q110_K111Splc

TTC1

72 papers

RefSeq Summary

This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of ...

Pfam Domains

TPR_8aa 122–149UCSCTetratricopeptide repeat
TPR_1aa 155–188UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 1

HGNC Alias Symbol

TPR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003314.3
p.Q110_K111Splc
c.331-1G>C
Surrounding Variants
1 paper
NM_003314.3
p.Q110_K111Splc
c.331-2A>G
1 paper
NM_003314.3
p.K128R
c.383A>G
1 paper
NM_003314.3
p.D131Splc
c.392-2A>G
2 papers
NM_003314.3
p.D131Splc
c.392-1G>A
1 paper
NM_003314.3
p.A142T
c.424G>A
1 paper
NM_003314.3
p.L143_E144delFs
c.429_430delCG
1 paper
NM_003314.3
p.E153_R154insFs
c.459_460insG
1 paper
NM_003314.3
p.S155W
c.464C>G
1 paper
NM_003314.3
p.S155S
c.465G>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."