Varaico: Literature-Extracted Genetic Variants

Gene:TTC22
Variant:p.K351E

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
3 papers
NM_001114108.2
p.K351E
c.1051A>G
Surrounding Variants
1 paper
NM_001114108.2
p.G356C
c.1066G>T
1 paper
NM_001114108.2
p.G356D
c.1067G>A
1 paper
NM_001114108.2
p.H342Y
c.1024C>T
6 papers
NM_001114108.2
p.L366P
c.1097T>C
1 paper
NM_001114108.2
p.G382R
c.1144G>C
1 paper
NM_001114108.2
p.A385V
c.1154C>T
1 paper
NM_001114108.2
p.G397G
c.1191C>T
1 paper
NM_001114108.2
p.V398M
c.1192G>A
1 paper
NM_001114108.2
p.L412delFs
c.1234delG
1 paper
NM_001114108.2
p.A429V
c.1286C>T
1 paper
NM_001114108.2
p.G446D
c.1337G>A
1 paper
NM_001114108.2
p.E477*
c.1429G>T
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