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

1–12 of 68 variants

3 papers

NM_006453.3

p.Q293R

c.878A>G

3 papers

NM_006453.3

p.A641T

c.1921G>A

2 papers

NM_006453.3

p.D68Y

c.202G>T

2 papers

NM_006453.3

p.S457P

c.1369T>C

2 papers

NM_006453.3

p.T600T

c.1800G>A

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.G28R

c.82G>A

1 paper

NM_006453.3

p.G28R

c.82G>C

1 paper

NM_006453.3

p.T35I

c.104C>T

1 paper

NM_006453.3

p.V57M

c.169G>A

1 paper

NM_006453.3

p.A106A

c.318G>A