Varaico: Literature-Extracted Genetic Variants

Gene:NID2
Variant:p.E357Splc

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.E357Splc
c.1069+15C>G
Surrounding Variants
1 paper
NM_007361.4
p.E356Q
c.1066G>C
3 papers
NM_007361.4
p.P354H
c.1061C>A
1 paper
NM_007361.4
p.T365N
c.1094C>A
1 paper
NM_007361.4
p.T369I
c.1106C>T
1 paper
NM_007361.4
p.G372R
c.1114G>C
1 paper
NM_007361.4
p.G372R
c.1114G>A
1 paper
NM_007361.4
p.G375V
c.1124G>T
1 paper
NM_007361.4
p.G376V
c.1127G>T
2 papers
NM_007361.4
p.D319N
c.955G>A
1 paper
NM_007361.4
p.P385R
c.1154C>G
1 paper
NM_007361.4
p.R298H
c.893G>A
1 paper
NM_007361.4
p.P415L
c.1244C>T
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