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.N515I

c.1544A>T

Surrounding Variants

5 papers

NM_003791.4

p.D530G

c.1589A>G

1 paper

NM_003791.4

p.S483Splc

c.1449-1G>T

1 paper

NM_003791.4

p.N544S

c.1631A>G

1 paper

NM_003791.4

p.V547L

c.1639G>C

2 papers

NM_003791.4

p.S552F

c.1655C>T

1 paper

NM_003791.4

p.S553L

c.1658C>T

1 paper

NM_003791.4

p.P557S

c.1669C>T

1 paper

NM_003791.4

p.A599V

c.1796C>T

1 paper

NM_003791.4

p.P608fs

c.1822_1823fs

1 paper

NM_003791.4

p.P608delFs

c.1824delG

1 paper

NM_003791.4

p.N630T

c.1889A>C

1 paper

NM_003791.4

p.Y633*

c.1899T>G