Varaico: Literature-Extracted Genetic Variants

Gene:CCT7
Variant:p.A56P

CCT7

57 papers

RefSeq Summary

This gene encodes 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 identical stacked rin...

Pfam Domains

Cpn60_TCP1aa 32–524UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

chaperonin containing TCP1 subunit 7

HGNC Alias Symbols

Ccth; Nip7-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006429.4
p.A56P
c.166G>C
Surrounding Variants
1 paper
NM_006429.4
p.S85F
c.254C>T
1 paper
NM_006429.4
p.R53I
c.158G>T
1 paper
NM_006429.4
p.R43H
c.128G>A
2 papers
NM_006429.4
p.I26M
c.78C>G
1 paper
NM_006429.4
p.A124V
c.371C>T
1 paper
NM_006429.4
p.R126H
c.377G>A
1 paper
NM_006429.4
p.L163fs
c.487_488fs
1 paper
NM_006429.4
p.Q171*
c.511C>T
1 paper
NM_006429.4
p.A173T
c.517G>A
2 papers
NM_006429.4
p.M1L
c.1A>C
2 papers
NM_006429.4
p.M1L
c.1A>T
1 paper
NM_006429.4
p.P235S
c.703C>T
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