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

18 papers

NM_001163435.3

p.R126*

c.376C>T

Surrounding Variants

1 paper

NM_001163435.3

p.R126G

c.376C>G

1 paper

NM_001163435.3

p.K127R

c.380A>G

1 paper

NM_001163435.3

p.L123L

c.369G>C

1 paper

NM_001163435.3

p.I112V

c.334A>G

1 paper

NM_001163435.3

p.A97_Q102ins2

c.290_304dup15

3 papers

NM_001163435.3

p.Q102*

c.304C>T

1 paper

NM_001163435.3

p.E99_V100ins4

c.295_299ins12

2 papers

NM_001163435.3

p.I130N

c.389T>A

1 paper

NM_001163435.3

p.G136E

c.407G>A

1 paper

NM_001163435.3

p.A142Fs

c.426delinsATGGTAAATATFs

1 paper

NM_001163435.3

p.G144C

c.430G>T

1 paper

NM_001163435.3

p.H143Fs

c.429delinsTTATGAFs