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.I488_P489delFs

c.1463_1467del5

Surrounding Variants

1 paper

NM_017752.3

p.G494*

c.1480G>T

1 paper

NM_017752.3

p.M498I

c.1494G>A

1 paper

NM_017752.3

p.M498I

c.1494G>C

1 paper

NM_017752.3

p.M498I

c.1494G>T

1 paper

NM_017752.3

p.E467E

c.1401A>G

2 papers

NM_017752.3

p.W461*

c.1383G>A

2 papers

NM_017752.3

p.W461*

c.1382G>A

1 paper

NM_017752.3

p.S460S

c.1380A>G

1 paper

NM_017752.3

p.M451_L452Splc

c.1354-1G>C

1 paper

NM_017752.3

p.T509N

c.1526C>A

1 paper

NM_017752.3

p.V517G

c.1550T>G

1 paper

NM_017752.3

p.Y562C

c.1685A>G