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

5 papers

NM_001163435.3

p.E687Splc

c.2060-2A>G

Surrounding Variants

5 papers

NM_001163435.3

p.E687fs

c.2059_2060fs

1 paper

NM_001163435.3

p.I688fs

c.2062_2063fs

1 paper

NM_001163435.3

p.C693F

c.2078G>T

1 paper

NM_033115.5

p.L637_F638ins4

c.1909_1913ins12

2 papers

NM_001163435.3

p.Y710*

c.2130C>G

2 papers

NM_001163435.3

p.Y710*

c.2130C>A

1 paper

NM_001163435.3

p.Q715*

c.2143C>T

1 paper

NM_001163435.3

p.S720F

c.2159C>T

1 paper

NM_033115.5

p.S657insFs

c.1969dupT

1 paper

NM_001163435.3

p.G726V

c.2177G>T

1 paper

NM_001163435.3

p.S729*

c.2186C>A

1 paper

NM_001163435.3

p.Y732C

c.2195A>G