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

1 paper

NM_001163435.3

p.C657insFs

c.1969dupT

Surrounding Variants

1 paper

NM_001163437.3

p.S614_F617del4

c.1840_1850del12

1 paper

NM_001163435.3

p.C657fs

c.1969_1970fs

1 paper

NM_001163437.3

p.C618delFs

c.1854delA

1 paper

NM_001163435.3

p.G650G

c.1950G>A

1 paper

NM_001163435.3

p.A672V

c.2015C>T

1 paper

NM_001163435.3

p.G674G

c.2022C>G

1 paper

NM_001163435.3

p.L637_H638ins4

c.1909_1913ins12

2 papers

NM_001163435.3

p.F635_P636delFs

c.1903_1907del5

2 papers

NM_033115.5

p.E614_L617del4

c.1840_1850del12

9 papers

NM_033115.5

p.H570Splc

c.1708+1G>A

NM_001163435.3

p.H633Splc

c.1897+1G>A