Varaico: Literature-Extracted Genetic Variants

SCUBE1

71 papers

RefSeq Summary

This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signa...

Pfam Domains

EGF_3aa 37–72UCSCEGF domain

cEGFaa 97–120UCSCComplement Clr-like EGF-like

FXa_inhibitionaa 121–156UCSCCoagulation Factor Xa inhibitory site

FXa_inhibitionaa 245–280UCSCCoagulation Factor Xa inhibitory site

FXa_inhibitionaa 286–321UCSCCoagulation Factor Xa inhibitory site

EGF_CAaa 323–360UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

signal peptide, CUB domain and EGF like domain containing 1

HGNC Previous Name

signal peptide, CUB domain, EGF-like 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_173050.5

p.R416G

c.1246C>G

Surrounding Variants

1 paper

NM_173050.5

p.A417T

c.1249G>A

1 paper

NM_173050.5

p.A436V

c.1307C>T

1 paper

NM_173050.5

p.C452Y

c.1355G>A

1 paper

NM_173050.5

p.P455T

c.1363C>A

1 paper

NM_173050.5

p.P455Q

c.1364C>A

1 paper

NM_173050.5

p.D478Splc

c.1433-1G>A

1 paper

NM_173050.5

p.I484N

c.1451T>A

1 paper

NM_173050.5

p.S531S

c.1593C>T

3 papers

NM_173050.5

p.G398R

c.1192G>C

3 papers

NM_173050.5

p.G398R

c.1192G>A

2 papers

NM_173050.5

p.P390R

c.1169C>G

1 paper

NM_173050.5

p.P390A

c.1168C>G