Varaico: Literature-Extracted Genetic Variants

Gene:NID2
Variant:p.N603S

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.N603S
c.1808A>G
Surrounding Variants
4 papers
NM_007361.4
p.E602D
c.1806G>T
4 papers
NM_007361.4
p.E602D
c.1806G>C
1 paper
NM_007361.4
p.A608T
c.1822G>A
1 paper
NM_007361.4
p.G588S
c.1762G>A
1 paper
NM_007361.4
p.A568S
c.1702G>T
1 paper
NM_007361.4
p.T567M
c.1700C>T
1 paper
NM_007361.4
p.G560V
c.1679G>T
1 paper
NM_007361.4
p.V542M
c.1624G>A
2 papers
NM_007361.4
p.P529S
c.1585C>T
1 paper
NM_007361.4
p.R493K
c.1478G>A
1 paper
NM_007361.4
p.E486K
c.1456G>A
1 paper
NM_007361.4
p.T479M
c.1436C>T
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