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.A134V

c.401C>T

Surrounding Variants

1 paper

NM_002508.3

p.E136K

c.406G>A

1 paper

NM_002508.3

p.E136G

c.407A>G

1 paper

NM_002508.3

p.E136D

c.408G>T

1 paper

NM_002508.3

p.E136D

c.408G>C

1 paper

NM_002508.3

p.R140delFs

c.419delC

1 paper

NM_002508.3

p.P143L

c.428C>T

1 paper

NM_002508.3

p.Y122S

c.365A>C

1 paper

NM_002508.3

p.G116_G118del0

c.346_354del9

1 paper

NM_002508.3

p.G118E

c.353G>A

1 paper

NM_002508.3

p.S151S

c.453C>T

1 paper

NM_002508.3

p.L117M

c.349C>A

2 papers

NM_002508.3

p.A152S

c.454G>T