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.T424N

c.1271C>A

Surrounding Variants

1 paper

NM_152753.4

p.R434L

c.1301G>T

2 papers

NM_152753.4

p.S410L

c.1229C>T

1 paper

NM_152753.4

p.A454P

c.1360G>C

1 paper

NM_152753.4

p.K486E

c.1456A>G

1 paper

NM_152753.4

p.R493delFs

c.1477delC

1 paper

NM_152753.4

p.R493fs

c.1477_1478fs

1 paper

NM_152753.4

p.L496_R497insT

c.1486_1490ins3

1 paper

NM_152753.4

p.N498I

c.1493A>T

1 paper

NM_152753.4

p.R507_I508insFs

c.1521_1522insGC

1 paper

NM_152753.4

p.T551P

c.1651A>C

1 paper

NM_152753.4

p.D594N

c.1780G>A

1 paper

NM_152753.4

p.R595C

c.1783C>T