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.S163S

c.489C>T

Surrounding Variants

1 paper

NM_001396959.1

p.P162S

c.484C>T

1 paper

NM_001396959.1

p.C161fs

c.481_482fs

1 paper

NM_001396959.1

p.E157K

c.469G>A

1 paper

NM_001396959.1

p.A150A

c.450G>T

1 paper

NM_001396959.1

p.A150E

c.449C>A

3 papers

NM_001396959.1

p.R148H

c.443G>A

1 paper

NM_001396959.1

p.V181M

c.541G>A

1 paper

NM_001396959.1

p.I197I

c.591C>T

1 paper

NM_001396959.1

p.G208E

c.623G>A

1 paper

NM_001396959.1

p.R213insFs

c.637_638ins31

2 papers

NM_001396959.1

p.N215_H218delFs

c.644_653del10

1 paper

NM_001396959.1

p.R213fs

c.637_638fs