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.D214insFs

c.642dupC

Surrounding Variants

1 paper

NM_152753.4

p.T211M

c.632C>T

1 paper

NM_152753.4

p.C221S

c.662G>C

1 paper

NM_152753.4

p.T231P

c.691A>C

3 papers

NM_152753.4

p.T231A

c.691A>G

1 paper

NM_152753.4

p.R195W

c.583C>T

1 paper

NM_152753.4

p.G178E

c.533G>A

1 paper

NM_152753.4

p.T175R

c.524C>G

1 paper

NM_152753.4

p.G167R

c.499G>C

1 paper

NM_152753.4

p.H166insFs

c.496_497insT

1 paper

NM_152753.4

p.E157Splc

c.469+259G>T

1 paper

NM_152753.4

p.E135D

c.405G>C

1 paper

NM_152753.4

p.E135D

c.405G>T