Varaico: Literature-Extracted Genetic Variants

Gene:TTC22
Variant:p.P191L

TTC22

67 papers

RefSeq Summary

This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and c...

Pfam Domains

TPR_8aa 432–464UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 22

HGNC Alias Symbol

FLJ20619

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114108.2
p.P191L
c.572C>T
Surrounding Variants
1 paper
NM_001114108.2
p.Q221H
c.663G>T
1 paper
NM_001114108.2
p.Q221H
c.663G>C
4 papers
NM_001114108.2
p.R229H
c.686G>A
1 paper
NM_001114108.2
p.T230T
c.690G>A
1 paper
NM_001114108.2
p.R235Q
c.704G>A
1 paper
NM_001114108.2
p.R244C
c.730C>T
1 paper
NM_001114108.2
p.H245Y
c.733C>T
2 papers
NM_001114108.2
p.W250*
c.749G>A
2 papers
NM_001114108.2
p.W250*
c.750G>A
1 paper
NM_001114108.2
p.Y252*
c.756C>G
1 paper
NM_001114108.2
p.Y252*
c.756C>A
1 paper
NM_001114108.2
p.M255fs
c.763_764fs
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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."