Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D25
Variant:p.R661H

TBC1D25

41 papers

RefSeq Summary

This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene ...

Pfam Domains

RabGAP-TBCaa 231–436UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 25

HGNC Previous Symbol

OATL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002536.4
p.R661H
c.1982G>A
Surrounding Variants
1 paper
NM_002536.4
p.R649H
c.1946G>A
4 papers
NM_002536.4
p.R635H
c.1904G>A
1 paper
NM_002536.4
p.R630H
c.1889G>A
1 paper
NM_002536.4
p.P590L
c.1769C>T
1 paper
NM_002536.4
p.E570K
c.1708G>A
1 paper
NM_002536.4
p.E541Q
c.1621G>C
1 paper
NM_002536.4
p.S536F
c.1607C>T
1 paper
NM_002536.4
p.G499W
c.1495G>T
1 paper
NM_002536.4
p.A474T
c.1420G>A
1 paper
NM_002536.4
p.P473T
c.1417C>A
1 paper
NM_002536.4
p.L412M
c.1234C>A
1 paper
NM_002536.4
p.R371P
c.1112G>C
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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."