Varaico: Literature-Extracted Genetic Variants

NID1

198 papers

RefSeq Summary

This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions...

Pfam Domains

NIDOaa 72–267UCSCNidogen-like

G2Faa 429–622UCSCG2F domain

EGF_CAaa 710–750UCSCCalcium-binding EGF domain

cEGFaa 784–805UCSCComplement Clr-like EGF-like

EGF_3aa 806–839UCSCEGF domain

Thyroglobulin_1aa 849–919UCSCThyroglobulin type-1 repeat

Gene Aliases

HGNC Name

nidogen 1

HGNC Alias Symbol

entactin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002508.3

p.N530S

c.1589A>G

Surrounding Variants

1 paper

NM_002508.3

p.L531M

c.1591C>A

1 paper

NM_002508.3

p.F524L

c.1572C>G

1 paper

NM_002508.3

p.F524L

c.1572C>A

1 paper

NM_002508.3

p.F524L

c.1570T>C

1 paper

NM_002508.3

p.I540I

c.1620C>T

1 paper

NM_002508.3

p.H543H

c.1629T>C

1 paper

NM_002508.3

p.H545Y

c.1633C>T

1 paper

NM_002508.3

p.G513V

c.1538G>T

1 paper

NM_002508.3

p.G513A

c.1538G>C

1 paper

NM_002508.3

p.G513R

c.1537G>C

1 paper

NM_002508.3

p.G513R

c.1537G>A

1 paper

NM_002508.3

p.G554G

c.1662C>T