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

1–12 of 43 variants

6 papers

NM_001146213.3

p.D397A

c.1190A>C

3 papers

NM_001146213.3

p.R400K

c.1199G>A

2 papers

NM_001146213.3

p.K222E

c.664A>G

1 paper

NM_001146213.3

p.I11F

c.31A>T

1 paper

NM_001146213.3

p.H21Y

c.61C>T

1 paper

NM_001146213.3

p.E46K

c.136G>A

1 paper

NM_001146213.3

p.R67K

c.200G>A

1 paper

NM_001146213.3

p.S72A

c.214T>G

1 paper

NM_001146213.3

p.Q78E

c.232C>G

1 paper

NM_001146213.3

p.A79S

c.235G>T

1 paper

NM_001146213.3

p.H85L

c.254A>T

1 paper

NM_001146213.3

p.Y94Y

c.282C>T