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.P42_Q43del2

c.124_128del6

Surrounding Variants

1 paper

NM_001367977.2

p.P34P

c.102G>T

1 paper

NM_001367977.2

p.L25P

c.74T>C

2 papers

NM_001367977.2

p.L22_P23del2

c.64_68del6

2 papers

NM_001367977.2

p.L22_P23del1

c.65_67delGCA

1 paper

NM_001367977.2

p.L22P

c.65T>C

1 paper

NM_001367977.2

p.L16fs

c.46_47fs

1 paper

NM_001367977.2

p.L16delFs

c.46delG

1 paper

NM_001367977.2

p.A14_V15delFs

c.42_43delCC

1 paper

NM_001367977.2

p.A14fs

c.40_41fs

2 papers

NM_001367977.2

p.R8delFs

c.22_23delCG

1 paper

NM_001367977.2

p.V46I

c.136G>A

1 paper

NM_001367977.2

p.E48*

c.142G>T