Varaico: Literature-Extracted Genetic Variants

Gene:TMEM59
Variant:p.T167I

TMEM59

39 papers

RefSeq Summary

This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus throu...

Pfam Domains

BSMAPaa 1–125UCSCBrain specific membrane anchored protein
BSMAPaa 72–143UCSCBrain specific membrane anchored protein

Gene Aliases

HGNC Name

transmembrane protein 59

HGNC Alias Symbol

HSPC001

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004872.5
p.T167I
c.500C>T
Surrounding Variants
1 paper
NM_004872.5
p.T167S
c.499A>T
1 paper
NM_004872.5
p.S165L
c.494C>T
1 paper
NM_004872.5
p.T163A
c.487A>G
1 paper
NM_004872.5
p.D174N
c.520G>A
2 papers
NM_004872.5
p.A158T
c.472G>A
1 paper
NM_004872.5
p.V147M
c.439G>A
1 paper
NM_004872.5
p.V147fs
c.439_440fs
1 paper
NM_004872.5
p.L140L
c.420A>T
1 paper
NM_004872.5
p.S182C
c.545C>G
1 paper
NM_004872.5
p.E193E
c.579G>A
2 papers
NM_001305066.2
p.W144_H145del1
c.432_434delTGC
1 paper
NM_004872.5
p.N119D
c.355A>G
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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."