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

3 papers

NM_017752.3

p.Q246H

c.738G>C

Surrounding Variants

3 papers

NM_017752.3

p.Q246H

c.738G>T

1 paper

NM_017752.3

p.A248S

c.742G>T

1 paper

NM_017752.3

p.A251V

c.752C>T

1 paper

NM_017752.3

p.D257H

c.769G>C

1 paper

NM_017752.3

p.K258T

c.773A>C

1 paper

NM_017752.3

p.R276Splc

c.827+12T>C

1 paper

NM_017752.3

p.K210*

c.628A>T

1 paper

NM_017752.3

p.I199F

c.595A>T

1 paper

NM_017752.3

p.L191S

c.572T>C

1 paper

NM_017752.3

p.R171W

c.511C>T

1 paper

NM_017752.3

p.R141Q

c.422G>A

1 paper

NM_017752.3

p.F290delFs

c.868delT