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.M1V

c.1A>G

Surrounding Variants

1 paper

NM_012453.4

p.S4W

c.11C>G

1 paper

NM_012453.4

p.S7L

c.20C>T

2 papers

NM_012453.4

p.E8Q

c.22G>C

1 paper

NM_012453.4

p.L19L

c.55C>T

1 paper

NM_012453.4

p.R29Fs

c.86delinsCCFs

1 paper

NM_012453.4

p.G35V

c.104G>T

1 paper

NM_012453.4

p.S39R

c.115A>C

1 paper

NM_012453.4

p.S39R

c.117C>G

1 paper

NM_012453.4

p.S39R

c.117C>A

1 paper

NM_012453.4

p.G40delFs

c.118delC

1 paper

NM_012453.4

p.A43T

c.127G>A

1 paper

NM_012453.4

p.Q45*

c.133C>T