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.C703S

c.2107T>A

Surrounding Variants

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.D695N

c.2083G>A

1 paper

NM_173050.5

p.R714H

c.2141G>A

1 paper

NM_173050.5

p.G716S

c.2146G>A

1 paper

NM_173050.5

p.C737delFs

c.2209_2210delCA

1 paper

NM_173050.5

p.A739S

c.2215G>T

1 paper

NM_173050.5

p.V741Splc

c.2221+2T>G

1 paper

NM_173050.5

p.P745fs

c.2233_2234fs

1 paper

NM_173050.5

p.T753S

c.2257A>T

1 paper

NM_173050.5

p.T753S

c.2258C>G

1 paper

NM_173050.5

p.G769R

c.2305G>C