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

1–12 of 69 variants

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.M368I

c.1104G>T

2 papers

NM_173050.5

p.M368I

c.1104G>C

2 papers

NM_173050.5

p.M368I

c.1104G>A

2 papers

NM_173050.5

p.P390R

c.1169C>G

2 papers

NM_173050.5

p.S648P

c.1942T>C

2 papers

NM_173050.5

p.R886H

c.2657G>A

1 paper

NM_173050.5

p.M1V

c.1A>G

1 paper

NM_173050.5

p.A5P

c.13G>C

1 paper

NM_173050.5

p.I46I

c.138C>T

1 paper

NM_173050.5

p.C59*

c.177C>A