Varaico: Literature-Extracted Genetic Variants

MBTPS1

148 papers

RefSeq Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branc...

Pfam Domains

MBTP1_Naa 51–130UCSCMembrane-bound Site-1 Protease Family N-terminal domain

Peptidase_S8aa 209–464UCSCSubtilase family

MBTPS1_3rdaa 485–616UCSCMBTPS1, third Ig-like domain

MBTPS1_4thaa 617–885UCSCMBTPS1, fourth GATase-like domain

Gene Aliases

HGNC Name

membrane bound transcription factor peptidase, site 1

HGNC Alias Symbols

S1P; KIAA0091; SKI-1; PCSK8

Papers

RefSeq ID

Protein change

DNA change

1–12 of 142 variants

9 papers

NM_003791.4

p.D365G

c.1094A>G

7 papers

NM_003791.4

p.S95insFs

c.285dupT

7 papers

NM_003791.4

p.W983*

c.2948G>A

7 papers

NM_003791.4

p.P1003S

c.3007C>T

6 papers

NM_003791.4

p.S878R

c.2634C>A

5 papers

NM_003791.4

p.E55K

c.163G>A

5 papers

NM_003791.4

p.A258A

c.774C>T

5 papers

NM_003791.4

p.V355G

c.1064T>G

5 papers

NM_003791.4

p.D530G

c.1589A>G

5 papers

NM_003791.4

p.G691Splc

c.2072-2A>T

5 papers

NM_003791.4

p.S878R

c.2632A>C

5 papers

NM_003791.4

p.S878R

c.2634C>G