Varaico: Literature-Extracted Genetic Variants

TBC1D15

51 papers

RefSeq Summary

This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein i...

Pfam Domains

PH_RBDaa 10–211UCSCRab-binding domain (RBD)

RabGAP-TBCaa 349–578UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 15

HGNC Alias Symbols

FLJ12085; DKFZp761D0223

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001146213.3

p.K222E

c.664A>G

Surrounding Variants

1 paper

NM_001146213.3

p.S250C

c.749C>G

1 paper

NM_001146213.3

p.Q253*

c.757C>T

1 paper

NM_001146213.3

p.P268T

c.802C>A

1 paper

NM_001146213.3

p.V282I

c.844G>A

1 paper

NM_001146213.3

p.E290K

c.868G>A

1 paper

NM_001146213.3

p.R291H

c.872G>A

1 paper

NM_001146213.3

p.P299L

c.896C>T

1 paper

NM_001146213.3

p.S301fs

c.901_902fs

1 paper

NM_001146213.3

p.L209F

c.625C>T

1 paper

NM_001146213.3

p.V195L

c.583G>C

1 paper

NM_001146213.3

p.V195L

c.583G>T

1 paper

NM_001146213.3

p.G329R

c.985G>A