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

2 papers

NM_002508.3

p.R31L

c.92G>T

Surrounding Variants

1 paper

NM_002508.3

p.G38D

c.113G>A

1 paper

NM_002508.3

p.G40R

c.118G>C

1 paper

NM_002508.3

p.G40R

c.118G>A

1 paper

NM_002508.3

p.G49R

c.145G>C

1 paper

NM_002508.3

p.T13T

c.39G>C

1 paper

NM_002508.3

p.G49R

c.145G>A

1 paper

NM_002508.3

p.G49E

c.146G>A

1 paper

NM_002508.3

p.W12delFs

c.35delC

1 paper

NM_002508.3

p.D67Y

c.199G>T

1 paper

NM_002508.3

p.R68*

c.202A>T