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

1–12 of 92 variants

3 papers

NM_017752.3

p.R64C

c.190C>T

3 papers

NM_017752.3

p.Q246H

c.738G>C

3 papers

NM_017752.3

p.Q246H

c.738G>T

3 papers

NM_017752.3

p.F291S

c.872T>C

2 papers

NM_017752.3

p.F439C

c.1316T>G

2 papers

NM_017752.3

p.W461*

c.1382G>A

2 papers

NM_017752.3

p.W461*

c.1383G>A

2 papers

NM_017752.3

p.T779S

c.2335A>T

2 papers

NM_017752.3

p.T780S

c.2338A>T

2 papers

NM_017752.3

p.D800N

c.2398G>A

2 papers

NM_017752.3

p.I805V

c.2413A>G

1 paper

NM_017752.3

p.P5P

c.15T>C