Varaico: Literature-Extracted Genetic Variants

NID2

147 papers

RefSeq Summary

This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the...

Pfam Domains

NIDOaa 73–272UCSCNidogen-like

G2Faa 527–713UCSCG2F domain

cEGFaa 783–804UCSCComplement Clr-like EGF-like

cEGFaa 874–895UCSCComplement Clr-like EGF-like

EGF_3aa 896–929UCSCEGF domain

Thyroglobulin_1aa 940–1005UCSCThyroglobulin type-1 repeat

Gene Aliases

HGNC Name

nidogen 2

HGNC Alias Name

osteonidogen

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007361.4

p.S767del1

c.2299_2300delGCT

Surrounding Variants

1 paper

NM_007361.4

p.R775Q

c.2324G>A

1 paper

NM_007361.4

p.G760V

c.2279G>T

1 paper

NM_007361.4

p.D756G

c.2267A>G

1 paper

NM_007361.4

p.E753E

c.2259G>A

1 paper

NM_007361.4

p.A789S

c.2365G>T

1 paper

NM_007361.4

p.G791E

c.2372G>A

1 paper

NM_007361.4

p.D801N

c.2401G>A

1 paper

NM_007361.4

p.D801E

c.2403T>G

1 paper

NM_007361.4

p.D801E

c.2403T>A

1 paper

NM_007361.4

p.P814S

c.2440C>T

1 paper

NM_007361.4

p.N815K

c.2445C>G

1 paper

NM_007361.4

p.N815K

c.2445C>A