Varaico: Literature-Extracted Genetic Variants

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.P1122H

c.3365C>A

Surrounding Variants

1 paper

NM_007361.4

p.L1136R

c.3407T>G

1 paper

NM_007361.4

p.P1103T

c.3307C>A

1 paper

NM_007361.4

p.M1092I

c.3276G>T

1 paper

NM_007361.4

p.M1092I

c.3276G>C

1 paper

NM_007361.4

p.M1092I

c.3276G>A

1 paper

NM_007361.4

p.V1088I

c.3262G>A

1 paper

NM_007361.4

p.T1081I

c.3242C>T

1 paper

NM_007361.4

p.R1075fs

c.3223_3224fs

1 paper

NM_007361.4

p.R1075delFs

c.3223delG

1 paper

NM_007361.4

p.C1063_D1065del3

c.3187_3194del9

1 paper

NM_007361.4

p.W1062*

c.3186G>A

1 paper

NM_007361.4

p.W1062*

c.3185G>A