Varaico: Literature-Extracted Genetic Variants

Gene:CCT2
Variant:p.L416F

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.L416F
c.1248G>T
Surrounding Variants
1 paper
NM_006431.3
p.L416F
c.1248G>C
1 paper
NM_006431.3
p.G411Splc
c.1232-3T>C
1 paper
NM_006431.3
p.N426D
c.1276A>G
1 paper
NM_006431.3
p.E437Q
c.1309G>C
1 paper
NM_006431.3
p.S404F
c.1211C>T
7 papers
NM_006431.3
p.T400P
c.1198A>C
1 paper
NM_006431.3
p.T400A
c.1198A>G
1 paper
NM_006431.3
p.A398A
c.1194G>A
5 papers
NM_006431.3
p.L394H
c.1181T>A
1 paper
NM_006431.3
p.D392A
c.1175A>C
1 paper
NM_006431.3
p.G377D
c.1130G>A
1 paper
NM_006431.3
p.R466R
c.1396A>C
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