Varaico: Literature-Extracted Genetic Variants

Gene:LYSET

LYSET

9 papers

Pfam Domains

TMEM251aa 34–161UCSCTransmembrane protein 251

Gene Aliases

HGNC Name

lysosomal enzyme trafficking factor

HGNC Previous Symbols

C14orf109; TMEM251

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_001098621.4
p.E72insFs
c.215dupA
1 paper
NM_001098621.4
p.R39W
c.115C>T
1 paper
NM_015676.3
p.R7W
c.19C>T
1 paper
NM_001098621.4
p.V59G
c.176T>G
1 paper
NM_001098621.4
p.E64delFs
c.190_191delGA
1 paper
NM_001098621.4
p.Y66insFs
c.197dupA
1 paper
NM_001098621.4
p.Y66*
c.198C>A
1 paper
NM_001098621.4
p.Y66*
c.198C>G
1 paper
NM_015676.3
p.H45Y
c.133C>T
1 paper
NM_001098621.4
p.L96delFs
c.286_287delCT
1 paper
NM_001098621.4
p.S97fs
c.289_290fs
1 paper
NM_001098621.4
p.M114T
c.341T>C
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