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

3 papers

NM_007361.4

p.P22Q

c.65C>A

Surrounding Variants

1 paper

NM_007361.4

p.D45fs

c.133_134fs

1 paper

NM_007361.4

p.E54fs

c.160_161fs

1 paper

NM_007361.4

p.L61L

c.181C>T

1 paper

NM_007361.4

p.R71L

c.212G>T

1 paper

NM_007361.4

p.Q86delFs

c.256delG

1 paper

NM_007361.4

p.P89T

c.265C>A

1 paper

NM_007361.4

p.P89H

c.266C>A

1 paper

NM_007361.4

p.P89fs

c.265_266fs

1 paper

NM_007361.4

p.P89delFs

c.267delG

5 papers

NM_007361.4

p.G118R

c.352G>C

1 paper

NM_007361.4

p.R119T

c.356G>C

1 paper

NM_007361.4

p.R138C

c.412C>T