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

2 papers

NM_017752.3

p.D800N

c.2398G>A

Surrounding Variants

1 paper

NM_017752.3

p.E801K

c.2401G>A

2 papers

NM_017752.3

p.I805V

c.2413A>G

1 paper

NM_017752.3

p.R786H

c.2357G>A

1 paper

NM_017752.3

p.R786C

c.2356C>T

1 paper

NM_017752.3

p.L812L

c.2436A>G

1 paper

NM_017752.3

p.Y815F

c.2444A>T

1 paper

NM_017752.3

p.W816*

c.2447G>A

1 paper

NM_017752.3

p.W816*

c.2448G>A

1 paper

NM_017752.3

p.P828A

c.2482C>G

1 paper

NM_017752.3

p.I878V

c.2632A>G

1 paper

NM_017752.3

p.H906R

c.2717A>G

1 paper

NM_017752.3

p.P909S

c.2725C>T