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

1–12 of 213 variants

5 papers

NM_002508.3

p.V246I

c.736G>A

4 papers

NM_002508.3

p.Q388*

c.1162C>T

4 papers

NM_002508.3

p.G504R

c.1510G>C

4 papers

NM_002508.3

p.G504R

c.1510G>A

4 papers

NM_002508.3

p.R757H

c.2270G>A

4 papers

NM_002508.3

p.Q1246R

c.3737A>G

3 papers

NM_002508.3

p.T389M

c.1166C>T

3 papers

NM_002508.3

p.G1129Splc

c.3385+1G>A

2 papers

NM_002508.3

p.R31L

c.92G>T

2 papers

NM_002508.3

p.V104V

c.312C>T

2 papers

NM_002508.3

p.A152S

c.454G>T

2 papers

NM_002508.3

p.A152V

c.455C>T