Varaico: Literature-Extracted Genetic Variants

Gene:CCT2
Variant:p.M480I

CCT2

84 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 35–525UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

chaperonin containing TCP1 subunit 2

HGNC Alias Symbol

Cctb

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006431.3
p.M480I
c.1440G>T
Surrounding Variants
1 paper
NM_006431.3
p.M480I
c.1440G>A
1 paper
NM_006431.3
p.M480I
c.1440G>C
1 paper
NM_006431.3
p.E495K
c.1483G>A
5 papers
NM_006431.3
p.R516H
c.1547G>A
1 paper
NM_006431.3
p.D518E
c.1554C>A
1 paper
NM_006431.3
p.D518E
c.1554C>G
1 paper
NM_006431.3
p.N473D
c.1417A>G
1 paper
NM_006431.3
p.R466R
c.1396A>C
1 paper
NM_006431.3
p.E437Q
c.1309G>C
1 paper
NM_006431.3
p.N426D
c.1276A>G
1 paper
NM_006431.3
p.L416F
c.1248G>C
1 paper
NM_006431.3
p.L416F
c.1248G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."