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.L672I

c.2014C>A

Surrounding Variants

1 paper

NM_173050.5

p.G673insFs

c.2017_2018insT

1 paper

NM_173050.5

p.S669S

c.2007C>T

1 paper

NM_173050.5

p.P665P

c.1995G>A

1 paper

NM_173050.5

p.N679K

c.2037C>G

1 paper

NM_173050.5

p.N679K

c.2037C>A

2 papers

NM_173050.5

p.S648P

c.1942T>C

1 paper

NM_173050.5

p.Q645R

c.1934A>G

1 paper

NM_173050.5

p.D695N

c.2083G>A

1 paper

NM_173050.5

p.C703S

c.2107T>A

1 paper

NM_173050.5

p.C703S

c.2108G>C

1 paper

NM_173050.5

p.V705M

c.2113G>A

1 paper

NM_173050.5

p.R714H

c.2141G>A