Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.Q469H

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
1 paper
NM_015884.4
p.Q469H
c.1407A>T
Surrounding Variants
1 paper
NM_015884.4
p.D467N
c.1399G>A
1 paper
NM_015884.4
p.N473H
c.1417A>C
8 papers
NM_015884.4
p.F464S
c.1391T>C
8 papers
NM_015884.4
p.F475S
c.1424T>C
4 papers
NM_015884.4
p.L476S
c.1427T>C
3 papers
NM_015884.4
p.D477V
c.1430A>T
5 papers
NM_015884.4
p.A478D
c.1433C>A
7 papers
NM_015884.4
p.N459S
c.1376A>G
3 papers
NM_015884.4
p.A454P
c.1360G>C
3 papers
NM_015884.4
p.L498F
c.1494G>C
3 papers
NM_015884.4
p.L498F
c.1494G>T
5 papers
NM_015884.4
p.G500D
c.1499G>A
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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."