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

4 papers

NM_001396959.1

p.V228G

c.683T>G

Surrounding Variants

1 paper

NM_001396959.1

p.M232L

c.694A>C

1 paper

NM_001396959.1

p.M232L

c.694A>T

2 papers

NM_001396959.1

p.R233H

c.698G>A

2 papers

NM_001396959.1

p.S237A

c.709T>G

1 paper

NM_001396959.1

p.A220delFs

c.658_659delGC

1 paper

NM_001396959.1

p.N215T

c.644A>C

1 paper

NM_001396959.1

p.N215fs

c.643_644fs

1 paper

NM_001396959.1

p.N215fs

c.643_644fs

1 paper

NM_001396959.1

p.N215delFs

c.643_644delAA

1 paper

NM_001396959.1

p.R213fs

c.637_638fs

2 papers

NM_001396959.1

p.N215_H218delFs

c.644_653del10

1 paper

NM_001396959.1

p.R213insFs

c.637_638ins31