Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCT6B

CCT6B

71 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 30–526UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

chaperonin containing TCP1 subunit 6B

HGNC Alias Symbols

Cctz2; TSA303

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 77 variants

7 papers

chr17:34942908 T>C

NM_006584.4

p.K205Splc

c.615-2A>G

Exome: 0.5% (AC=7250, hom=21)Genome: 0.4% (AC=538, hom=2)11 overlapping SVs

4 papers

chr17:34961344 C>T

NM_006584.4

p.R17Q

c.50G>A

Exome: 57.4% (AC=837228, hom=243153)Genome: 50.1% (AC=76140, hom=20338)12 overlapping SVs

4 papers

chr17:34959645 A>G

NM_006584.4

p.V48A

c.143T>C

Cpn60_TCP1

Exome: 22.6% (AC=328576, hom=41401)Genome: 20.6% (AC=31257, hom=3759)12 overlapping SVs

3 papers

chr17:34958630 C>T

NM_006584.4

p.G89E

c.266G>A

Cpn60_TCP1

Exome: 0.1% (AC=761, hom=16)Genome: 0.0% (AC=46, hom=0)11 overlapping SVs

2 papers

chr17:34954578 C>T

NM_006584.4

p.A120T

c.358G>A

Cpn60_TCP1

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=54, hom=0)11 overlapping SVs

2 papers

chr17:34942871 C>T

NM_006584.4

p.R217H

c.650G>A

Cpn60_TCP1

Exome: 0.0% (AC=95, hom=2)Genome: 0.0% (AC=14, hom=0)11 overlapping SVs

2 papers

chr17:34942629 C>G

NM_006584.4

p.G247A

c.740G>C

Cpn60_TCP1

Exome: 34.7% (AC=496762, hom=89213)Genome: 29.0% (AC=44105, hom=6988)11 overlapping SVs

2 papers

chr17:34939210 G>A

NM_006584.4

p.R396C

c.1186C>T

Cpn60_TCP1

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=4, hom=0)11 overlapping SVs

2 papers

chr17:34931003 CT>C

NM_006584.4

p.K465delFs

c.1395delT

Cpn60_TCP1

Exome: 0.0% (AC=284, hom=5)Genome: 0.0% (AC=23, hom=0)12 overlapping SVs

2 papers

chr17:34928074 G>A

NM_006584.4

p.R523*

c.1567C>T

Cpn60_TCP1

Exome: 0.0% (AC=102, hom=0)Genome: 0.0% (AC=10, hom=0)12 overlapping SVs

1 paper

chr17:34961376 G>GGCC

NM_006584.4

p.K5_A6ins0

c.15_17dupGGC

exact variant not in gnomAD12 overlapping SVs

1 paper

chr17:34961370 G>GN

NM_006584.4

p.N8fs

c.22_23fs

exact variant not in gnomAD12 overlapping SVs

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."