Varaico: Literature-Extracted Genetic Variants

Gene:NID2
Variant:p.N1270S

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.N1270S
c.3809A>G
Surrounding Variants
2 papers
NM_007361.4
p.T1257M
c.3770C>T
1 paper
NM_007361.4
p.G1241D
c.3722G>A
3 papers
NM_007361.4
p.K1296R
c.3887A>G
1 paper
NM_007361.4
p.G1307R
c.3919G>C
1 paper
NM_007361.4
p.G1307R
c.3919G>A
1 paper
NM_007361.4
p.R1309H
c.3926G>A
1 paper
NM_007361.4
p.L1315F
c.3943C>T
1 paper
NM_007361.4
p.R1357Q
c.4070G>A
1 paper
NM_007361.4
p.A1365T
c.4093G>A
1 paper
NM_007361.4
p.G1241D
c.3722G>A
2 papers
NM_007361.4
p.P1238S
c.3712C>T
1 paper
NM_007361.4
p.D1227D
c.3681T>C
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