Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D25
Variant:p.F82delFs

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.F82delFs
c.244delT
Surrounding Variants
1 paper
NM_002536.4
p.F82fs
c.244_245fs
1 paper
NM_002536.4
p.K80Q
c.238A>C
1 paper
NM_002536.4
p.D129G
c.386A>G
1 paper
NM_002536.4
p.R52C
c.154C>T
1 paper
NM_002536.4
p.E50A
c.149A>C
1 paper
NM_002536.4
p.L47F
c.141G>C
1 paper
NM_002536.4
p.L47F
c.141G>T
1 paper
NM_002536.4
p.E31V
c.92A>T
1 paper
NM_002536.4
p.Q23K
c.67C>A
1 paper
NM_002536.4
p.Q23*
c.67C>T
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