Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D15
Variant:p.D397A

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)
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
6 papers
NM_001146213.3
p.D397A
c.1190A>C
Surrounding Variants
3 papers
NM_001146213.3
p.R400K
c.1199G>A
1 paper
NM_001146213.3
p.R391I
c.1172G>T
1 paper
NM_001146213.3
p.M369I
c.1107G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."