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.V30fs

c.88_89fs

Surrounding Variants

1 paper

NM_152753.4

p.I42I

c.126C>A

1 paper

NM_152753.4

p.C74*

c.222C>A

1 paper

NM_152753.4

p.A80G

c.239C>G

1 paper

NM_152753.4

p.V83L

c.247G>T

1 paper

NM_152753.4

p.H84R

c.251A>G

1 paper

NM_152753.4

p.C97W

c.291C>G

2 papers

NM_152753.4

p.D112Splc

c.335-3C>T

1 paper

NM_152753.4

p.E115A

c.344A>C

1 paper

NM_152753.4

p.E135D

c.405G>C

1 paper

NM_152753.4

p.E135D

c.405G>T

1 paper

NM_152753.4

p.E157Splc

c.469+259G>T

1 paper

NM_152753.4

p.H166insFs

c.496_497insT