Varaico: Literature-Extracted Genetic Variants

Gene:NID2
Variant:p.S656P

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.S656P
c.1966T>C
Surrounding Variants
1 paper
NM_007361.4
p.V655D
c.1964T>A
1 paper
NM_007361.4
p.V655I
c.1963G>A
1 paper
NM_007361.4
p.N658K
c.1974T>G
1 paper
NM_007361.4
p.N658K
c.1974T>A
2 papers
NM_007361.4
p.D674N
c.2020G>A
2 papers
NM_007361.4
p.G635V
c.1904G>T
1 paper
NM_007361.4
p.E625*
c.1873G>T
1 paper
NM_007361.4
p.A608T
c.1822G>A
1 paper
NM_007361.4
p.N603S
c.1808A>G
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.G588S
c.1762G>A
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