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

2 papers

NM_006453.3

p.S457P

c.1369T>C

Surrounding Variants

1 paper

NM_006453.3

p.P450L

c.1349C>T

1 paper

NM_006453.3

p.V485M

c.1453G>A

1 paper

NM_006453.3

p.L494L

c.1482G>T

1 paper

NM_006453.3

p.K557_T558Splc

c.1671+6T>C

1 paper

NM_006453.3

p.V427I

c.1279G>A

1 paper

NM_006453.3

p.S423S

c.1269T>C

1 paper

NM_006453.3

p.H422Q

c.1266C>A

1 paper

NM_006453.3

p.H422Q

c.1266C>G

1 paper

NM_006453.3

p.R401H

c.1202G>A

1 paper

NM_006453.3

p.V400I

c.1198G>A

2 papers

NM_006453.3

p.T600T

c.1800G>A

1 paper

NM_006453.3

p.V608I

c.1822G>A