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.P1050H

c.3149C>A

Surrounding Variants

5 papers

NM_003791.4

p.*1053R

c.3157T>C

4 papers

NM_003791.4

p.*1053R

c.3157T>A

5 papers

NM_003791.4

p.*1053C

c.3159A>T

4 papers

NM_003791.4

p.*1053C

c.3159A>C

1 paper

NM_003791.4

p.R1031G

c.3091A>G

1 paper

NM_003791.4

p.P1003H

c.3008C>A

7 papers

NM_003791.4

p.P1003S

c.3007C>T

1 paper

NM_003791.4

p.M990I

c.2970G>T

1 paper

NM_003791.4

p.M990I

c.2970G>C

1 paper

NM_003791.4

p.M990I

c.2970G>A

1 paper

NM_003791.4

p.M990L

c.2968A>T

1 paper

NM_003791.4

p.M990L

c.2968A>C