Varaico: Literature-Extracted Genetic Variants

Gene:CCT4
Variant:p.D104E

CCT4

64 papers

RefSeq Summary

The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assi...

Pfam Domains

Cpn60_TCP1aa 44–539UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

chaperonin containing TCP1 subunit 4

HGNC Alias Symbol

Cctd

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006430.4
p.D104E
c.312T>G
Surrounding Variants
1 paper
NM_006430.4
p.D104E
c.312T>A
1 paper
NM_006430.4
p.S115F
c.344C>T
1 paper
NM_006430.4
p.Q125*
c.373C>T
1 paper
NM_006430.4
p.S134delFs
c.400delA
1 paper
NM_006430.4
p.E142G
c.425A>G
1 paper
NM_006430.4
p.V155M
c.463G>A
1 paper
NM_006430.4
p.L164L
c.492A>G
1 paper
NM_006430.4
p.L171insFs
c.512_513insGC
1 paper
NM_006430.4
p.A200T
c.598G>A
1 paper
NM_006430.4
p.R206T
c.617G>C
1 paper
NM_006430.4
p.D207N
c.619G>A
1 paper
NM_006430.4
p.I208I
c.624T>A
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