Varaico: Literature-Extracted Genetic Variants

Gene:CCT6A
Variant:p.D166H

CCT6A

74 papers

RefSeq Summary

The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two ide...

Pfam Domains

Cpn60_TCP1aa 30–526UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

chaperonin containing TCP1 subunit 6A

HGNC Previous Symbol

CCT6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001762.4
p.D166H
c.496G>C
Surrounding Variants
2 papers
NM_001762.4
p.H161Y
c.481C>T
1 paper
NM_001762.4
p.V151M
c.451G>A
1 paper
NM_001762.4
p.I149T
c.446T>C
1 paper
NM_001762.4
p.V139L
c.415G>C
1 paper
NM_001762.4
p.K127R
c.380A>G
1 paper
NM_001762.4
p.A126V
c.377C>T
1 paper
NM_001762.4
p.E121Q
c.361G>C
1 paper
NM_001762.4
p.G113fs
c.337_338fs
1 paper
NM_001762.4
p.A171S
c.511G>T
2 papers
NM_001762.4
p.E184G
c.551A>G
1 paper
NM_001762.4
p.E201G
c.602A>G
1 paper
NM_001762.4
p.E112_G113Splc
c.336+1G>A
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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."