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.E247K

c.739G>A

Surrounding Variants

1 paper

NM_006453.3

p.G259G

c.777G>C

1 paper

NM_006453.3

p.L263M

c.787C>A

1 paper

NM_006453.3

p.D267N

c.799G>A

1 paper

NM_006453.3

p.V235A

c.704T>C

1 paper

NM_006453.3

p.V235M

c.703G>A

1 paper

NM_006453.3

p.R272C

c.814C>T

1 paper

NM_006453.3

p.I218I

c.654A>C

1 paper

NM_006453.3

p.P288L

c.863C>T

3 papers

NM_006453.3

p.Q293R

c.878A>G

1 paper

NM_006453.3

p.E294Q

c.880G>C

1 paper

NM_006453.3

p.S212Splc

c.635+4A>G

1 paper

NM_006453.3

p.D206N

c.616G>A