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

1–12 of 189 variants

18 papers

NM_001163435.3

p.R126*

c.376C>T

7 papers

NM_001163435.3

p.H633Splc

c.1897+1G>A

5 papers

NM_001163435.3

p.K455*

c.1363A>T

5 papers

NM_001163435.3

p.E687Splc

c.2060-2A>G

5 papers

NM_001163435.3

p.E687fs

c.2059_2060fs

4 papers

NM_001163435.3

p.M268_K269delFs

c.803_806del4

4 papers

NM_001163435.3

p.R511H

c.1532G>A

4 papers

NM_001163435.3

p.L551P

c.1652T>C

3 papers

NM_001163435.3

p.V69delFs

c.205_206delAC

3 papers

NM_001163435.3

p.Q102*

c.304C>T

3 papers

NM_001163435.3

p.N457delFs

c.1370delT

3 papers

NM_033115.5

p.H570Splc

c.1708+1G>A