Varaico: Literature-Extracted Genetic Variants

TBL2

43 papers

RefSeq Summary

This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellu...

Pfam Domains

WD40aa 80–118UCSCWD domain, G-beta repeat

WD40aa 179–216UCSCWD domain, G-beta repeat

WD40aa 269–307UCSCWD domain, G-beta repeat

WD40aa 365–400UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

transducin beta like 2

HGNC Alias Symbols

WS-betaTRP; WBSCR13; DKFZP43N024

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012453.4

p.Q45*

c.133C>T

Surrounding Variants

1 paper

NM_012453.4

p.Q45delFs

c.133_134delTG

1 paper

NM_012453.4

p.R68Q

c.203G>A

1 paper

NM_012453.4

p.E70G

c.209A>G

1 paper

NM_012453.4

p.E70A

c.209A>C

1 paper

NM_012453.4

p.R80C

c.238C>T

1 paper

NM_012453.4

p.K87_S88Splc

c.262-127C>G

1 paper

NM_012453.4

p.S90delFs

c.270delG

1 paper

NM_012453.4

p.N92S

c.275A>G

1 paper

NM_012453.4

p.K103T

c.308A>C

1 paper

NM_012453.4

p.N133_V134del2

c.397_401del6

1 paper

NM_012453.4

p.F164V

c.490T>G

1 paper

NM_012453.4

p.K165E

c.493A>G