Varaico: Literature-Extracted Genetic Variants

TBCK

128 papers

RefSeq Summary

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, c...

Pfam Domains

Pkinaseaa 32–150UCSCProtein kinase domain

Pkinaseaa 32–273UCSCProtein kinase domain

RabGAP-TBCaa 469–671UCSCRab-GTPase-TBC domain

Rhodaneseaa 784–883UCSCRhodanese-like domain

Gene Aliases

HGNC Name

TBC1 domain containing kinase

HGNC Alias Symbols

MGC16169; HSPC302; Fy-1; FERRY1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001163435.3

p.V69delFs

c.205_206delAC

Surrounding Variants

1 paper

NM_001163435.3

p.R66*

c.196C>T

2 papers

NM_001163435.3

p.R83*

c.247C>T

1 paper

NM_001163435.3

p.E84delFs

c.252delT