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

4 papers

NM_002508.3

p.R757H

c.2270G>A

Surrounding Variants

1 paper

NM_002508.3

p.V754M

c.2260G>A

1 paper

NM_002508.3

p.L766F

c.2296C>T

1 paper

NM_002508.3

p.R774W

c.2320C>T

1 paper

NM_002508.3

p.Y779C

c.2336A>G

1 paper

NM_002508.3

p.T780P

c.2338A>C

1 paper

NM_002508.3

p.Q801K

c.2401C>A

1 paper

NM_002508.3

p.Q807H

c.2421G>T

1 paper

NM_002508.3

p.Q807H

c.2421G>C

1 paper

NM_002508.3

p.P813P

c.2439T>A

1 paper

NM_002508.3

p.P830H

c.2489C>A

1 paper

NM_002508.3

p.R838C

c.2512C>T

1 paper

NM_002508.3

p.G842R

c.2524G>C