Varaico: Literature-Extracted Genetic Variants

TBC1D8B

67 papers

RefSeq Summary

This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting the...

Pfam Domains

GRAMaa 145–253UCSCGRAM domain

GRAMaa 285–385UCSCGRAM domain

RabGAP-TBCaa 490–694UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 8B

HGNC Alias Symbols

FLJ20298; RP11-321G1.1; GRAMD8B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017752.3

p.G39R

c.115G>C

Surrounding Variants

1 paper

NM_017752.3

p.G39R

c.115G>A

1 paper

NM_017752.3

p.E37G

c.110A>G

1 paper

NM_017752.3

p.R32Q

c.95G>A

1 paper

NM_017752.3

p.M19V

c.55A>G

1 paper

NM_017752.3

p.P5P

c.15T>C

1 paper

NM_017752.3

p.E6insFs

c.17_18dupAG