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.D698fs

c.2092_2093fs

Surrounding Variants

1 paper

NM_017752.3

p.K697delFs

c.2089delA

1 paper

NM_017752.3

p.L653I

c.1957C>A

1 paper

NM_017752.3

p.R609H

c.1826G>A

1 paper

NM_017752.3

p.T735N

c.2204C>A

1 paper

NM_017752.3

p.R765C

c.2293C>T

1 paper

NM_017752.3

p.R767*

c.2299C>T

1 paper

NM_017752.3

p.L770F

c.2310G>C

1 paper

NM_017752.3

p.L770F

c.2310G>T

1 paper

NM_017752.3

p.V772E

c.2315T>A

2 papers

NM_017752.3

p.T779S

c.2335A>T

2 papers

NM_017752.3

p.T780S

c.2338A>T

1 paper

NM_017752.3

p.N783S

c.2348A>G