Varaico: Literature-Extracted Genetic Variants

Gene:TTC4
Variant:p.A168A

TTC4

50 papers

RefSeq Summary

This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock protei...

Pfam Domains

Wheelaa 266–375UCSCCns1/TTC4 Wheel domain

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 4

HGNC Alias Symbols

MGC5097; FLJ41930; CNS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004623.5
p.A168A
c.504C>T
Surrounding Variants
1 paper
NM_004623.5
p.H166R
c.497A>G
1 paper
NM_004623.5
p.G177R
c.529G>A
1 paper
NM_004623.5
p.G177R
c.529G>C
1 paper
NM_004623.5
p.G157Splc
c.469+12G>A
1 paper
NM_004623.5
p.K152E
c.454A>G
1 paper
NM_004623.5
p.R134fs
c.400_401fs
1 paper
NM_004623.5
p.R134_A142delFs
c.400_425del26
1 paper
NM_004623.5
p.N122S
c.365A>G
1 paper
NM_004623.5
p.L119F
c.355C>T
1 paper
NM_004623.5
p.K107*
c.319A>T
1 paper
NM_004623.5
p.Y102delFs
c.305delA
1 paper
NM_004623.5
p.Y82C
c.245A>G
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