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.V153A

c.458T>C

Surrounding Variants

1 paper

NM_006453.3

p.T144A

c.430A>G

1 paper

NM_006453.3

p.G143R

c.427G>A

1 paper

NM_006453.3

p.G143R

c.427G>C

1 paper

NM_006453.3

p.F159S

c.476T>C

1 paper

NM_006453.3

p.P161P

c.483G>A

1 paper

NM_006453.3

p.S181*

c.542C>A

1 paper

NM_006453.3

p.S181*

c.542C>G

1 paper

NM_006453.3

p.P119S

c.355C>T

1 paper

NM_006453.3

p.T109M

c.326C>T

1 paper

NM_006453.3

p.A106A

c.318G>A

1 paper

NM_006453.3

p.D206N

c.616G>A

1 paper

NM_006453.3

p.S212Splc

c.635+4A>G