Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.M87I

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
5 papers
NM_015884.4
p.M87I
c.261G>T
Surrounding Variants
7 papers
NM_015884.4
p.M87I
c.261G>A
5 papers
NM_015884.4
p.M87I
c.261G>C
1 paper
NM_015884.4
p.F82S
c.245T>C
1 paper
NM_015884.4
p.T97M
c.290C>T
4 papers
NM_015884.4
p.W75Splc
c.225-6T>A
1 paper
NM_015884.4
p.W75Splc
c.225-12C>T
1 paper
NM_015884.4
p.S109A
c.325T>G
1 paper
NM_015884.4
p.S118delFs
c.353delC
1 paper
NM_015884.4
p.S126T
c.376T>A
1 paper
NM_015884.4
p.S128del1
c.382_383delTCT
1 paper
NM_015884.4
p.S130A
c.388T>G
1 paper
NM_015884.4
p.S136Fs
c.407delinsCTFs
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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."