Varaico: Literature-Extracted Genetic Variants

TBL3

58 papers

RefSeq Summary

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory func...

Pfam Domains

WD40aa 102–137UCSCWD domain, G-beta repeat

WD40aa 185–223UCSCWD domain, G-beta repeat

WD40aa 366–404UCSCWD domain, G-beta repeat

WD40aa 411–450UCSCWD domain, G-beta repeat

WD40aa 469–507UCSCWD domain, G-beta repeat

WD40aa 511–549UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

transducin beta like 3

HGNC Alias Symbols

SAZD; UTP13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006453.3

p.R690Q

c.2069G>A

Surrounding Variants

1 paper

NM_006453.3

p.A695V

c.2084C>T

1 paper

NM_006453.3

p.A701V

c.2102C>T

1 paper

NM_006453.3

p.D677H

c.2029G>C

1 paper

NM_006453.3

p.R653Splc

c.1959-4A>G

1 paper

NM_006453.3

p.V734M

c.2200G>A

1 paper

NM_006453.3

p.R741R

c.2223A>C

2 papers

NM_006453.3

p.E746K

c.2236G>A

2 papers

NM_006453.3

p.E746V

c.2237A>T

1 paper

NM_006453.3

p.Q644K

c.1930C>A

3 papers

NM_006453.3

p.A641T

c.1921G>A

1 paper

NM_006453.3

p.A638V

c.1913C>T

1 paper

NM_006453.3

p.R766L

c.2297G>T