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.N421del1

c.1261_1262delGTT

Surrounding Variants

1 paper

NM_012453.4

p.S423N

c.1268G>A

1 paper

NM_012453.4

p.R425L

c.1274G>T

1 paper

NM_012453.4

p.E437V

c.1310A>T

1 paper

NM_012453.4

p.L442delFs

c.1324delG

1 paper

NM_012453.4

p.R397W

c.1189C>T

1 paper

NM_012453.4

p.R370P

c.1109G>C

1 paper

NM_012453.4

p.S350N

c.1049G>A

5 papers

NM_012453.4

p.V345I

c.1033G>A

1 paper

NM_012453.4

p.L337P

c.1010T>C

1 paper

NM_012453.4

p.A329E

c.986C>A

1 paper

NM_012453.4

p.Q316*

c.946C>T

1 paper

NM_012453.4

p.D307Y

c.919G>T