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

5 papers

NM_002508.3

p.V246I

c.736G>A

Surrounding Variants

1 paper

NM_002508.3

p.K251*

c.751A>T

1 paper

NM_002508.3

p.A240T

c.718G>A

1 paper

NM_002508.3

p.W230R

c.688T>C

1 paper

NM_002508.3

p.W230R

c.688T>A

1 paper

NM_002508.3

p.F221L

c.663C>G

1 paper

NM_002508.3

p.F221L

c.663C>A

1 paper

NM_002508.3

p.F221L

c.661T>C

1 paper

NM_002508.3

p.V219I

c.655G>A

1 paper

NM_002508.3

p.N213S

c.638A>G

1 paper

NM_002508.3

p.I193V

c.577A>G

1 paper

NM_002508.3

p.Y191D

c.571T>G

1 paper

NM_002508.3

p.D187G

c.560A>G