Varaico: Literature-Extracted Genetic Variants

Gene:TTC22
Variant:p.R259W

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
2 papers
NM_001114108.2
p.R259W
c.775C>T
Surrounding Variants
1 paper
NM_001114108.2
p.M255fs
c.763_764fs
1 paper
NM_001114108.2
p.G254_M255Fs
c.762_763delinsAFs
1 paper
NM_001114108.2
p.Y252*
c.756C>G
1 paper
NM_001114108.2
p.Y252*
c.756C>A
2 papers
NM_001114108.2
p.W250*
c.750G>A
2 papers
NM_001114108.2
p.W250*
c.749G>A
1 paper
NM_001114108.2
p.C273F
c.818G>T
1 paper
NM_001114108.2
p.Y275H
c.823T>C
1 paper
NM_001114108.2
p.S276*
c.827C>G
1 paper
NM_001114108.2
p.S276*
c.827C>A
1 paper
NM_001114108.2
p.D279N
c.835G>A
1 paper
NM_001114108.2
p.K286_A287Splc
c.859-239C>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."