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.P538S

c.1612C>T

Surrounding Variants

1 paper

NM_001367977.2

p.R542*

c.1624C>T

1 paper

NM_001367977.2

p.P546S

c.1636C>T

1 paper

NM_001367977.2

p.V520I

c.1558G>A

1 paper

NM_001367977.2

p.P497S

c.1489C>T

1 paper

NM_001367977.2

p.S481F

c.1442C>T

1 paper

NM_001367977.2

p.R575P

c.1724G>C

1 paper

NM_001367977.2

p.V586V

c.1758T>G

1 paper

NM_001367977.2

p.E589Q

c.1765G>C

1 paper

NM_001367977.2

p.W437G

c.1309T>G

2 papers

NM_001367977.2

p.L435L

c.1305C>T

1 paper

NM_001367977.2

p.H430R

c.1289A>G

1 paper

NM_001367977.2

p.C427Y

c.1280G>A