Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.L498F

MBTPS2

186 papers

RefSeq Summary

This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ...

Pfam Domains

Peptidase_M50aa 159–501UCSCPeptidase family M50

Gene Aliases

HGNC Name

membrane bound transcription factor peptidase, site 2

HGNC Previous Symbol

KFSD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015884.4
p.L498F
c.1494G>T
Surrounding Variants
3 papers
NM_015884.4
p.L498F
c.1494G>C
5 papers
NM_015884.4
p.G500D
c.1499G>A
6 papers
NM_015884.4
p.L505F
c.1515G>C
6 papers
NM_015884.4
p.L505F
c.1515G>T
6 papers
NM_015884.4
p.N508T
c.1523A>C
17 papers
NM_015884.4
p.N508S
c.1523A>G
1 paper
NM_015884.4
p.N508I
c.1523A>T
5 papers
NM_015884.4
p.L513P
c.1538T>C
5 papers
NM_015884.4
p.A478D
c.1433C>A
3 papers
NM_015884.4
p.D477V
c.1430A>T
4 papers
NM_015884.4
p.L476S
c.1427T>C
8 papers
NM_015884.4
p.F475S
c.1424T>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."