Varaico: Literature-Extracted Genetic Variants

Gene:TTC1
Variant:p.E207A

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
1 paper
NM_003314.3
p.E207A
c.620A>C
Surrounding Variants
1 paper
NM_003314.3
p.D211N
c.631G>A
2 papers
NM_003314.3
p.T202M
c.605C>T
2 papers
NM_003314.3
p.K201*
c.601A>T
1 paper
NM_003314.3
p.S187R
c.561C>A
1 paper
NM_003314.3
p.S187R
c.561C>G
1 paper
NM_003314.3
p.S187R
c.559A>C
2 papers
NM_003314.3
p.R239C
c.715C>T
1 paper
NM_003314.3
p.E245*
c.733G>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."