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.S377fs

c.1129_1130fs

Surrounding Variants

1 paper

NM_001367977.2

p.D371Y

c.1111G>T

1 paper

NM_001367977.2

p.R391*

c.1171C>T

1 paper

NM_001367977.2

p.C401R

c.1201T>C

1 paper

NM_001367977.2

p.C401W

c.1203T>G

1 paper

NM_001367977.2

p.D364Splc

c.1091-71T>G

1 paper

NM_001367977.2

p.V417I

c.1249G>A

1 paper

NM_001367977.2

p.V417V

c.1251C>T

1 paper

NM_001367977.2

p.C427Y

c.1280G>A

1 paper

NM_001367977.2

p.H430R

c.1289A>G

2 papers

NM_001367977.2

p.L435L

c.1305C>T

1 paper

NM_001367977.2

p.W437G

c.1309T>G

1 paper

NM_001367977.2

p.S481F

c.1442C>T