Varaico: Literature-Extracted Genetic Variants

Gene:CCT6A
Variant:p.L64R

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
1 paper
NM_001762.4
p.L64R
c.191T>G
Surrounding Variants
1 paper
NM_001762.4
p.L56R
c.167T>G
1 paper
NM_001762.4
p.V48A
c.143T>C
1 paper
NM_001762.4
p.V48F
c.142G>T
1 paper
NM_001762.4
p.V33G
c.98T>G
1 paper
NM_001762.4
p.S25R
c.75C>A
1 paper
NM_001762.4
p.V22V
c.66C>T
1 paper
NM_001762.4
p.K10fs
c.28_29fs
1 paper
NM_001762.4
p.P9insFs
c.27dupC
1 paper
NM_001762.4
p.V4insFs
c.11dupT
1 paper
NM_001762.4
p.D90E
c.270T>A
1 paper
NM_001762.4
p.D90E
c.270T>G
1 paper
NM_001762.4
p.K104N
c.312A>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."