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.N1112K

c.3336T>G

Surrounding Variants

1 paper

NM_002508.3

p.N1112K

c.3336T>A

1 paper

NM_002508.3

p.P1111delFs

c.3333delG

1 paper

NM_002508.3

p.P1111fs

c.3331_3332fs

1 paper

NM_002508.3

p.D1107N

c.3319G>A

1 paper

NM_002508.3

p.Q1105Q

c.3315G>A

1 paper

NM_002508.3

p.D1127N

c.3379G>A

3 papers

NM_002508.3

p.G1129Splc

c.3385+1G>A

1 paper

NM_002508.3

p.N1077K

c.3231C>G

1 paper

NM_002508.3

p.N1077K

c.3231C>A

2 papers

NM_002508.3

p.R1132W

c.3394C>T

1 paper

NM_002508.3

p.E1148K

c.3442G>A

1 paper

NM_002508.3

p.P1153R

c.3458C>G