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

Selected Variant

2 papers

NM_003791.4

p.Y665*

c.1995C>G

Surrounding Variants

1 paper

NM_003791.4

p.Y665*

c.1995C>A

1 paper

NM_003791.4

p.H667D

c.1999C>G

1 paper

NM_003791.4

p.W652*

c.1956G>A

1 paper

NM_003791.4

p.W652*

c.1955G>A

1 paper

NM_003791.4

p.P681R

c.2042C>G

3 papers

NM_003791.4

p.P681H

c.2042C>A

5 papers

NM_003791.4

p.G691Splc

c.2072-2A>T

1 paper

NM_003791.4

p.P704R

c.2111C>G

1 paper

NM_003791.4

p.S730C

c.2189C>G

1 paper

NM_003791.4

p.Y633*

c.1899T>G

1 paper

NM_003791.4

p.N630T

c.1889A>C

1 paper

NM_003791.4

p.P608delFs

c.1824delG