Varaico: Literature-Extracted Genetic Variants

TBC1D1

174 papers

RefSeq Summary

TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significan...

Pfam Domains

PIDaa 277–381UCSCPhosphotyrosine interaction domain (PTB/PID)

DUF3350aa 690–745UCSCDomain of unknown function (DUF3350)

RabGAP-TBCaa 803–1014UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 1

HGNC Alias Symbols

TBC1; KIAA1108

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001396959.1

p.T355del1

c.1063_1064delACA

Surrounding Variants

1 paper

NM_001396959.1

p.E357Q

c.1069G>C

1 paper

NM_001396959.1

p.Y350*

c.1050C>A

1 paper

NM_001396959.1

p.L359V

c.1075C>G

1 paper

NM_001396959.1

p.H346fs

c.1036_1037fs

1 paper

NM_001396959.1

p.F345_H346delFs

c.1033_1037del5

1 paper

NM_001396959.1

p.C336delFs

c.1008delT

2 papers

NM_001396959.1

p.R327K

c.980G>A

1 paper

NM_001396959.1

p.R327fs

c.979_980fs

1 paper

NM_001396959.1

p.G325G

c.975C>A

1 paper

NM_001396959.1

p.G325_I326insFs

c.975_978dup4

1 paper

NM_001396959.1

p.M364R

c.1091T>G

1 paper

NM_001396959.1

p.L367L

c.1099C>T