Varaico: Literature-Extracted Genetic Variants

SCUBE2

11p15.4 (UCSC)OMIM GTEx

77 papers

Pfam Domains

EGF_3aa 49–84UCSCEGF domain

cEGFaa 108–131UCSCComplement Clr-like EGF-like

FXa_inhibitionaa 132–167UCSCCoagulation Factor Xa inhibitory site

FXa_inhibitionaa 286–321UCSCCoagulation Factor Xa inhibitory site

FXa_inhibitionaa 327–362UCSCCoagulation Factor Xa inhibitory site

EGF_CAaa 364–401UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

signal peptide, CUB domain and EGF like domain containing 2

HGNC Alias Symbols

Cegf1; Cegb1; FLJ16792

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001367977.2

p.F204Y

c.611T>A

Surrounding Variants

2 papers

NM_001367977.2

p.I187V

c.559A>G

1 paper

NM_001367977.2

p.H182H

c.546C>T

1 paper

NM_001367977.2

p.G222S

c.664G>A

2 papers

NM_001367977.2

p.T231I

c.692C>T

2 papers

NM_001367977.2

p.D233N

c.697G>A

1 paper

NM_001367977.2

p.P235S

c.703C>T

1 paper

NM_001367977.2

p.G249W

c.745G>T

1 paper

NM_001367977.2

p.E254Splc

c.761-6T>C

1 paper

NM_001367977.2

p.R280W

c.838C>T

1 paper

NM_001367977.2

p.R280Q

c.839G>A

1 paper

NM_001367977.2

p.S171L

c.512C>T

1 paper

NM_001367977.2

p.I168V

c.502A>G