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

1 paper

NM_003791.4

p.M332L

c.994A>T

Surrounding Variants

1 paper

NM_003791.4

p.M332L

c.994A>C

1 paper

NM_003791.4

p.V330I

c.988G>A

1 paper

NM_003791.4

p.A335S

c.1003G>T

1 paper

NM_003791.4

p.G340R

c.1018G>C

1 paper

NM_003791.4

p.G340R

c.1018G>A

2 papers

NM_003791.4

p.V319F

c.955G>T

1 paper

NM_003791.4

p.D315A

c.944A>C

1 paper

NM_003791.4

p.P311P

c.933G>A

1 paper

NM_003791.4

p.G310S

c.928G>A

1 paper

NM_003791.4

p.K300T

c.899A>C

1 paper

NM_003791.4

p.K299Q

c.895A>C

5 papers

NM_003791.4

p.A258A

c.774C>T