Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.W226L

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.W226L
c.677G>T
Surrounding Variants
6 papers
NM_015884.4
p.H227L
c.680A>T
5 papers
NM_015884.4
p.F229S
c.686T>C
10 papers
NM_015884.4
p.G224Splc
c.671-9T>G
1 paper
NM_015884.4
p.I236_L237insFs
c.708_709ins7
1 paper
NM_015884.4
p.I236_L237insFs
c.708_709ins8
1 paper
NM_015884.4
p.A238fs
c.712_713fs
1 paper
NM_015884.4
p.L241insFs
c.722_723insC
1 paper
NM_015884.4
p.P243S
c.727C>T
1 paper
NM_015884.4
p.P248_F249del0
c.742_747del6
1 paper
NM_015884.4
p.P248T
c.742C>A
3 papers
NM_015884.4
p.G253A
c.758G>C
1 paper
NM_015884.4
p.V256M
c.766G>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."