Varaico: Literature-Extracted Genetic Variants

SCUBE3

78 papers

RefSeq Summary

This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression...

Pfam Domains

EGF_3aa 33–68UCSCEGF domain

cEGFaa 92–115UCSCComplement Clr-like EGF-like

FXa_inhibitionaa 161–197UCSCCoagulation Factor Xa inhibitory site

cEGFaa 257–280UCSCComplement Clr-like EGF-like

FXa_inhibitionaa 281–316UCSCCoagulation Factor Xa inhibitory site

EGF_CAaa 318–355UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

signal peptide, CUB domain and EGF like domain containing 3

HGNC Previous Symbol

CEGF3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 88 variants

4 papers

NM_152753.4

p.N294K

c.882C>A

4 papers

NM_152753.4

p.N294K

c.882C>G

3 papers

NM_152753.4

p.T231A

c.691A>G

2 papers

NM_152753.4

p.D112Splc

c.335-3C>T

2 papers

NM_152753.4

p.Q269Q

c.807G>A

2 papers

NM_152753.4

p.S410L

c.1229C>T

2 papers

NM_152753.4

p.Q666*

c.1996C>T

2 papers

NM_152753.4

p.G702E

c.2105G>A

1 paper

NM_152753.4

p.A20V

c.59C>T

1 paper

NM_152753.4

p.V30fs

c.88_89fs

1 paper

NM_152753.4

p.I42I

c.126C>A

1 paper

NM_152753.4

p.C74*

c.222C>A