Varaico: Literature-Extracted Genetic Variants

Gene:TTC1
Variant:p.N88K

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
3 papers
NM_003314.3
p.N88K
c.264T>G
Surrounding Variants
3 papers
NM_003314.3
p.N88K
c.264T>A
1 paper
NM_003314.3
p.E99K
c.295G>A
1 paper
NM_003314.3
p.L100_E101insFs
c.300_301ins4
1 paper
NM_003314.3
p.E101K
c.301G>A
1 paper
NM_003314.3
p.E101fs
c.301_302fs
1 paper
NM_003314.3
p.G75A
c.224G>C
1 paper
NM_003314.3
p.N103I
c.308A>T
1 paper
NM_003314.3
p.M104L
c.310A>T
1 paper
NM_003314.3
p.A68V
c.203C>T
1 paper
NM_003314.3
p.A68T
c.202G>A
1 paper
NM_003314.3
p.C62Y
c.185G>A
1 paper
NM_003314.3
p.E61A
c.182A>C
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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."