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.D446N

c.1336G>A

Surrounding Variants

1 paper

NM_001163435.3

p.I442insFs

c.1324dupA

1 paper

NM_001290768.2

p.L277_K278insFs

c.831_832insTA

1 paper

NM_001163435.3

p.I442fs

c.1324_1325fs

1 paper

NM_001163435.3

p.R441S

c.1323A>C

1 paper

NM_001163435.3

p.I430delFs

c.1290delG

1 paper

NM_001163435.3

p.T425M

c.1274C>T

1 paper

NM_001290768.2

p.A251insFs

c.753dupT

1 paper

NM_033115.5

p.A359E

c.1076C>A

1 paper

NM_001163435.3

p.E419*

c.1255G>T

1 paper

NM_001163435.3

p.P412L

c.1235C>T

1 paper

NM_001163435.3

p.Q408Q

c.1224G>A

1 paper

NM_001163435.3

p.D407N

c.1219G>A