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.K527N

c.1581A>C

Surrounding Variants

2 papers

NM_001163435.3

p.R530C

c.1588C>T

2 papers

NM_001163435.3

p.H525Y

c.1573C>T

1 paper

NM_001163435.3

p.L518_L519delFs

c.1554_1555delAC

4 papers

NM_001163435.3

p.R511H

c.1532G>A

1 paper

NM_001163435.3

p.W545*

c.1635G>A

1 paper

NM_001163435.3

p.Q504H

c.1512A>C

1 paper

NM_001163437.3

p.D457delFs

c.1370delT

4 papers

NM_001163435.3

p.L551P

c.1652T>C

2 papers

NM_001163435.3

p.A564Splc

c.1690+4A>T

1 paper

NM_001163435.3

p.G473_W476delFs

c.1417_1427del11

1 paper

NM_001163435.3

p.R464S

c.1392A>C

1 paper

NM_001163435.3

p.I459M

c.1377C>G