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.N457K

c.1371C>G

Surrounding Variants

2 papers

NM_001163435.3

p.N457fs

c.1369_1370fs

1 paper

NM_001163435.3

p.N457insFs

c.1370dupA

1 paper

NM_001163435.3

p.N457K

c.1371C>A

3 papers

NM_001163435.3

p.N457delFs

c.1370delT

1 paper

NM_001163435.3

p.K456_N457delFs

c.1368_1369delTT

2 papers

NM_001163435.3

p.N457fs

c.1369_1370fs

1 paper

NM_001163435.3

p.I459M

c.1377C>G

5 papers

NM_001163435.3

p.K455*

c.1363A>T

1 paper

NM_001163435.3

p.R464S

c.1392A>C

1 paper

NM_001163435.3

p.G473_W476delFs

c.1417_1427del11

1 paper

NM_001290768.2

p.L277_K278insFs

c.831_832insTA

1 paper

NM_001163435.3

p.D446N

c.1336G>A