Varaico: Literature-Extracted Genetic Variants

Gene:CCT8
Variant:p.A180A

CCT8

39 papers

RefSeq Summary

This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative spli...

Pfam Domains

Cpn60_TCP1aa 39–529UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

chaperonin containing TCP1 subunit 8

HGNC Previous Symbol

C21orf112

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006585.4
p.A180A
c.540C>G
Surrounding Variants
1 paper
NM_006585.4
p.L182P
c.545T>C
1 paper
NM_006585.4
p.S161L
c.482C>T
1 paper
NM_006585.4
p.V147I
c.439G>A
1 paper
NM_006585.4
p.H140Q
c.420T>G
1 paper
NM_006585.4
p.H140Q
c.420T>A
1 paper
NM_006585.4
p.L119R
c.356T>G
1 paper
NM_006585.4
p.F103I
c.307T>A
1 paper
NM_006585.4
p.V87fs
c.259_260fs
1 paper
NM_006585.4
p.P81R
c.242C>G
1 paper
NM_006585.4
p.M249I
c.747G>T
1 paper
NM_006585.4
p.M249I
c.747G>C
1 paper
NM_006585.4
p.M249I
c.747G>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."