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.Q388*

c.1162C>T

Surrounding Variants

2 papers

NM_002508.3

p.R387H

c.1160G>A

1 paper

NM_002508.3

p.R387C

c.1159C>T

3 papers

NM_002508.3

p.T389M

c.1166C>T

1 paper

NM_002508.3

p.S386F

c.1157C>T

1 paper

NM_002508.3

p.T408M

c.1223C>T

1 paper

NM_002508.3

p.V379Splc

c.1135+2T>C

1 paper

NM_002508.3

p.V367A

c.1100T>C

1 paper

NM_002508.3

p.P346_Q354del9

c.1036_1061del27

1 paper

NM_002508.3

p.G344E

c.1031G>A

1 paper

NM_002508.3

p.Y326insFs

c.977_978insA

1 paper

NM_002508.3

p.Y326insFs

c.976_977insA

1 paper

NM_002508.3

p.G321R

c.961G>A