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.R191C

c.571C>T

Surrounding Variants

1 paper

NM_003791.4

p.P190L

c.569C>T

1 paper

NM_003791.4

p.Q192R

c.575A>G

1 paper

NM_003791.4

p.A188fs

c.562_563fs

1 paper

NM_003791.4

p.L186P

c.557T>C

1 paper

NM_003791.4

p.R184W

c.550C>T

1 paper

NM_003791.4

p.S181L

c.542C>T

1 paper

NM_003791.4

p.V201M

c.601G>A

1 paper

NM_003791.4

p.Y207F

c.620A>T

1 paper

NM_003791.4

p.W152R

c.454T>C

1 paper

NM_003791.4

p.W152R

c.454T>A

1 paper

NM_003791.4

p.D142E

c.426C>G

1 paper

NM_003791.4

p.A210D

c.629C>A