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

5 papers

NM_001396959.1

p.S14P

c.40T>C

Surrounding Variants

1 paper

NM_001396959.1

p.H11R

c.32A>G

1 paper

NM_001396959.1

p.D20fs

c.58_59fs

1 paper

NM_001396959.1

p.G22R

c.64G>C

1 paper

NM_001396959.1

p.M1L

c.1A>T

1 paper

NM_001396959.1

p.T36A

c.106A>G

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.R56K

c.167G>A

1 paper

NM_001396959.1

p.R56T

c.167G>C

1 paper

NM_001396959.1

p.K57*

c.169A>T

2 papers

NM_001396959.1

p.E58K

c.172G>A

1 paper

NM_001396959.1

p.G72R

c.214G>A