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.Q1246R

c.3737A>G

Surrounding Variants

1 paper

NM_002508.3

p.*1248*

c.3743G>A

1 paper

NM_002508.3

p.I1244V

c.3730A>G

1 paper

NM_002508.3

p.G1228G

c.3684G>A

1 paper

NM_002508.3

p.T1226I

c.3677C>T

1 paper

NM_002508.3

p.T1220S

c.3659C>G

1 paper

NM_002508.3

p.T1220S

c.3658A>T

1 paper

NM_002508.3

p.G1218S

c.3652G>A

1 paper

NM_002508.3

p.A1201T

c.3601G>A

1 paper

NM_002508.3

p.L1163V

c.3487C>G

1 paper

NM_002508.3

p.K1161Q

c.3481A>C

1 paper

NM_002508.3

p.G1160A

c.3479G>C

1 paper

NM_002508.3

p.P1153R

c.3458C>G