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.M268fs

c.802_803fs

Surrounding Variants

1 paper

NM_001163435.3

p.M268fs

c.802_803fs

5 papers

NM_033115.5

p.M205_K206delFs

c.614_617del4

NM_001163435.3

p.M268_K269delFs

c.803_806del4

2 papers

NM_033115.5

p.M205_K206del2

c.613_617del6

1 paper

NM_001163435.3

p.Q266E

c.796C>G

2 papers

NM_001163435.3

p.R261S

c.783G>T

2 papers

NM_001163435.3

p.R261S

c.783G>C

1 paper

NM_033115.5

p.V213insFs

c.637_638ins4

1 paper

NM_001163435.3

p.S277*

c.830C>G

1 paper

NM_001163435.3

p.S277*

c.830C>A

2 papers

NM_001163435.3

p.S277_P278insFs

c.831_832insTA

2 papers

NM_001163435.3

p.P278fs

c.832_833fs

1 paper

NM_001163435.3

p.V276_S277ins0

c.828_830dupATC