Varaico: Literature-Extracted Genetic Variants

Gene:NID2
Variant:p.G453D

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
2 papers
NM_007361.4
p.G453D
c.1358G>A
Surrounding Variants
2 papers
NM_007361.4
p.R447Q
c.1340G>A
1 paper
NM_007361.4
p.L446I
c.1336C>A
1 paper
NM_007361.4
p.T462M
c.1385C>T
1 paper
NM_007361.4
p.T462K
c.1385C>A
1 paper
NM_007361.4
p.E443Q
c.1327G>C
1 paper
NM_007361.4
p.S473T
c.1417T>A
1 paper
NM_007361.4
p.S431L
c.1292C>T
1 paper
NM_007361.4
p.T475T
c.1425C>A
1 paper
NM_007361.4
p.P430S
c.1288C>T
1 paper
NM_007361.4
p.G426V
c.1277G>T
1 paper
NM_007361.4
p.G426E
c.1277G>A
1 paper
NM_007361.4
p.P424S
c.1270C>T
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