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

Selected Variant

1 paper

NM_152753.4

p.I872T

c.2615T>C

Surrounding Variants

1 paper

NM_152753.4

p.S867*

c.2600C>A

1 paper

NM_152753.4

p.T880T

c.2640C>T

1 paper

NM_152753.4

p.Y881Y

c.2643C>T

1 paper

NM_152753.4

p.I885T

c.2654T>C

1 paper

NM_152753.4

p.R907C

c.2719C>T

1 paper

NM_152753.4

p.Q910*

c.2728C>T

1 paper

NM_152753.4

p.P912L

c.2735C>T

1 paper

NM_152753.4

p.E918Splc

c.2753-47A>G

1 paper

NM_152753.4

p.R929G

c.2785C>G

1 paper

NM_152753.4

p.D930insFs

c.2789dupA

1 paper

NM_152753.4

p.E941K

c.2821G>A

1 paper

NM_152753.4

p.S867Splc

c.2599+2T>C