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.S371F

c.1112C>T

Surrounding Variants

2 papers

NM_003791.4

p.A368T

c.1102G>A

1 paper

NM_003791.4

p.M375T

c.1124T>C

3 papers

NM_003791.4

p.T376A

c.1126A>G

1 paper

NM_003791.4

p.N366I

c.1097A>T

9 papers

NM_003791.4

p.D365G

c.1094A>G

1 paper

NM_003791.4

p.D365_W378delFs

c.1094_1134del41

5 papers

NM_003791.4

p.V355G

c.1064T>G

1 paper

NM_003791.4

p.P349S

c.1045C>T

1 paper

NM_003791.4

p.R408W

c.1222C>T

1 paper

NM_003791.4

p.L410R

c.1229T>G

1 paper

NM_003791.4

p.S411*

c.1232C>G

1 paper

NM_003791.4

p.S411*

c.1232C>A