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.T245S

c.734C>G

Surrounding Variants

1 paper

NM_007361.4

p.T245S

c.733A>T

3 papers

NM_007361.4

p.P240S

c.718C>T

1 paper

NM_007361.4

p.Q256delFs

c.767delT

1 paper

NM_007361.4

p.D233G

c.698A>G

1 paper

NM_007361.4

p.V217I

c.649G>A

1 paper

NM_007361.4

p.G208E

c.623G>A

1 paper

NM_007361.4

p.G208R

c.622G>C

1 paper

NM_007361.4

p.G208R

c.622G>A

1 paper

NM_007361.4

p.N202H

c.604A>C

1 paper

NM_007361.4

p.Y194C

c.581A>G

1 paper

NM_007361.4

p.L186F

c.558G>T

1 paper

NM_007361.4

p.L186F

c.558G>C