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

5 papers

NM_003791.4

p.S878R

c.2634C>G

Surrounding Variants

6 papers

NM_003791.4

p.S878R

c.2634C>A

5 papers

NM_003791.4

p.S878R

c.2632A>C

1 paper

NM_003791.4

p.S871S

c.2613G>A

5 papers

NM_003791.4

p.Q886*

c.2656C>T

1 paper

NM_003791.4

p.D858Splc

c.2573-1G>C

1 paper

NM_003791.4

p.H906N

c.2716C>A

1 paper

NM_003791.4

p.R907W

c.2719C>T

1 paper

NM_003791.4

p.K920N

c.2760A>C

1 paper

NM_003791.4

p.K934K

c.2802G>A

1 paper

NM_003791.4

p.A942A

c.2826G>A

2 papers

NM_003791.4

p.S944Splc

c.2831+5G>T

1 paper

NM_003791.4

p.K857K

c.2571G>A