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.K57*

c.169A>T

Surrounding Variants

1 paper

NM_001396959.1

p.R56K

c.167G>A

1 paper

NM_001396959.1

p.R56T

c.167G>C

2 papers

NM_001396959.1

p.E58K

c.172G>A

1 paper

NM_001396959.1

p.T55S

c.164C>G

1 paper

NM_001396959.1

p.T55I

c.164C>T

1 paper

NM_001396959.1

p.G72R

c.214G>A

1 paper

NM_001396959.1

p.G72R

c.214G>C

4 papers

NM_001396959.1

p.L73L

c.219G>A

1 paper

NM_001396959.1

p.P77S

c.229C>T

1 paper

NM_001396959.1

p.T36A

c.106A>G

2 papers

NM_001396959.1

p.Q84Q

c.252G>A

1 paper

NM_001396959.1

p.D86A

c.257A>C