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

1–12 of 136 variants

27 papers

NM_001396959.1

p.R125W

c.373C>T

5 papers

NM_001396959.1

p.S14P

c.40T>C

4 papers

NM_001396959.1

p.L73L

c.219G>A

4 papers

NM_001396959.1

p.V228G

c.683T>G

3 papers

NM_001396959.1

p.R148H

c.443G>A

3 papers

NM_001396959.1

p.A384P

c.1150G>C

3 papers

NM_001396959.1

p.G389S

c.1165G>A

2 papers

NM_001396959.1

p.E58K

c.172G>A

2 papers

NM_001396959.1

p.Q84Q

c.252G>A

2 papers

NM_001396959.1

p.N215_H218delFs

c.644_653del10

2 papers

NM_001396959.1

p.R233H

c.698G>A

2 papers

NM_001396959.1

p.S237A

c.709T>G