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.M785delFs

c.2355delC

Surrounding Variants

1 paper

NM_003791.4

p.F796L

c.2386T>C

1 paper

NM_003791.4

p.F796L

c.2388T>G

1 paper

NM_003791.4

p.F796L

c.2388T>A

1 paper

NM_003791.4

p.M785Splc

c.2353+3A>G

1 paper

NM_003791.4

p.L780M

c.2338C>A

1 paper

NM_003791.4

p.V764L

c.2290G>T

1 paper

NM_003791.4

p.V764L

c.2290G>C

2 papers

NM_003791.4

p.G752V

c.2255G>T

1 paper

NM_003791.4

p.G751R

c.2251G>C

1 paper

NM_003791.4

p.G751R

c.2251G>A

1 paper

NM_003791.4

p.P748L

c.2243C>T

1 paper

NM_003791.4

p.S730C

c.2189C>G