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

3 papers

NM_001396959.1

p.A384P

c.1150G>C

Surrounding Variants

1 paper

NM_001396959.1

p.P383L

c.1148C>T

3 papers

NM_001396959.1

p.G389S

c.1165G>A

1 paper

NM_001396959.1

p.F371L

c.1113C>A

1 paper

NM_001396959.1

p.F371L

c.1113C>G

1 paper

NM_001396959.1

p.F371L

c.1111T>C

1 paper

NM_001396959.1

p.E400E

c.1200G>A

1 paper

NM_001396959.1

p.L367L

c.1099C>T

1 paper

NM_001396959.1

p.M364R

c.1091T>G

1 paper

NM_001396959.1

p.L359V

c.1075C>G

1 paper

NM_001396959.1

p.E357Q

c.1069G>C

1 paper

NM_001396959.1

p.T355del1

c.1063_1064delACA

1 paper

NM_001396959.1

p.Y350*

c.1050C>A