Varaico: Literature-Extracted Genetic Variants

Gene:TCP1
Variant:p.H113D

TCP1

78 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 28–535UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

t-complex 1

HGNC Alias Symbols

D6S230E; CCT1; Ccta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030752.3
p.H113D
c.337C>G
Surrounding Variants
1 paper
NM_030752.3
p.E127V
c.380A>T
1 paper
NM_030752.3
p.E134delFs
c.400delC
1 paper
NM_030752.3
p.I137T
c.410T>C
1 paper
NM_030752.3
p.T154delFs
c.461delG
2 papers
NM_030752.3
p.K159R
c.476A>G
1 paper
NM_030752.3
p.A175fs
c.523_524fs
1 paper
NM_030752.3
p.I211S
c.632T>G
1 paper
NM_030752.3
p.G213C
c.637G>T
1 paper
NM_030752.3
p.V220A
c.659T>C
1 paper
NM_030752.3
p.G89E
c.266G>A
1 paper
NM_030752.3
p.E85fs
c.253_254fs
1 paper
NM_030752.3
p.K63R
c.188A>G
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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."