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

1–12 of 79 variants

4 papers

NM_001367977.2

p.E80*

c.238G>T

4 papers

NM_001367977.2

p.T285M

c.854C>T

2 papers

NM_001367977.2

p.R8delFs

c.22_23delCG

2 papers

NM_001367977.2

p.L22_P23del1

c.65_67delGCA

2 papers

NM_001367977.2

p.L22_P23del2

c.64_68del6

2 papers

NM_001367977.2

p.T65_T67del3

c.193_200del9

2 papers

NM_001367977.2

p.R110C

c.328C>T

2 papers

NM_001367977.2

p.I187V

c.559A>G

2 papers

NM_001367977.2

p.T231I

c.692C>T

2 papers

NM_001367977.2

p.D233N

c.697G>A

2 papers

NM_001367977.2

p.L435L

c.1305C>T

2 papers

NM_001367977.2

p.S655P

c.1963T>C