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.F291S

c.872T>C

Surrounding Variants

1 paper

NM_017752.3

p.F290delFs

c.868delT

1 paper

NM_017752.3

p.K295I

c.884A>T

1 paper

NM_017752.3

p.E304A

c.911A>C

1 paper

NM_017752.3

p.W308R

c.922T>A

1 paper

NM_017752.3

p.W308R

c.922T>C

1 paper

NM_017752.3

p.S338N

c.1013G>A

1 paper

NM_017752.3

p.R344*

c.1030C>T

1 paper

NM_017752.3

p.V346F

c.1036G>T

1 paper

NM_017752.3

p.D350G

c.1049A>G

1 paper

NM_017752.3

p.D354H

c.1060G>C

1 paper

NM_017752.3

p.S358T

c.1072T>A

1 paper

NM_017752.3

p.R370H

c.1109G>A