Varaico: Literature-Extracted Genetic Variants

Gene:TTC22
Variant:p.M551fs

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.M551fs
c.1651_1652fs
Surrounding Variants
1 paper
NM_001114108.2
p.M551delFs
c.1652delA
1 paper
NM_001114108.2
p.R553R
c.1659C>T
1 paper
NM_001114108.2
p.R545W
c.1633C>T
1 paper
NM_001114108.2
p.R564C
c.1690C>T
1 paper
NM_001114108.2
p.S568P
c.1702T>C
1 paper
NM_001114108.2
p.V528G
c.1583T>G
1 paper
NM_001114108.2
p.L517P
c.1550T>C
5 papers
NM_001114108.2
p.A510V
c.1529C>T
1 paper
NM_001114108.2
p.Y508D
c.1522T>G
1 paper
NM_001114108.2
p.R503H
c.1508G>A
1 paper
NM_001114108.2
p.D498Y
c.1492G>T
1 paper
NM_001114108.2
p.E477*
c.1429G>T
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