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.G1241D

c.3722G>A

Surrounding Variants

2 papers

NM_007361.4

p.P1238S

c.3712C>T

1 paper

NM_007361.4

p.D1227D

c.3681T>C

1 paper

NM_007361.4

p.R1220C

c.3658C>T

1 paper

NM_007361.4

p.R1198K

c.3593G>A

1 paper

NM_007361.4

p.L1191insFs

c.3571dupC

1 paper

NM_007361.4

p.R1164Q

c.3491G>A

1 paper

NM_007361.4

p.R1164W

c.3490C>T

1 paper

NM_007361.4

p.T1159S

c.3475A>T

1 paper

NM_007361.4

p.G1241D

c.3722G>A

2 papers

NM_007361.4

p.T1257M

c.3770C>T

1 paper

NM_007361.4

p.N1270S

c.3809A>G

1 paper

NM_007361.4

p.L1136R

c.3407T>G