Varaico: Literature-Extracted Genetic Variants

LNX1

70 papers

RefSeq Summary

This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and su...

Pfam Domains

zf-C3HC4aa 41–77UCSCZinc finger, C3HC4 type (RING finger)

PDZaa 274–356UCSCPDZ domain

PDZaa 381–461UCSCPDZ domain

PDZaa 507–590UCSCPDZ domain

PDZaa 638–721UCSCPDZ domain

Gene Aliases

HGNC Name

ligand of numb-protein X 1

HGNC Alias Symbol

PDZRN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001126328.3

p.A131V

c.392C>T

Surrounding Variants

1 paper

NM_001126328.3

p.G135S

c.403G>A

1 paper

NM_001126328.3

p.R143H

c.428G>A

1 paper

NM_001126328.3

p.A153T

c.457G>A

1 paper

NM_001126328.3

p.S165A

c.493T>G

1 paper

NM_001126328.3

p.G191W

c.571G>T

1 paper

NM_001126328.3

p.A194T

c.580G>A

1 paper

NM_001126328.3

p.I195N

c.584T>A

1 paper

NM_001126328.3

p.T215A

c.643A>G

4 papers

NM_001126328.3

p.A227V

c.680C>T

1 paper

NM_001126328.3

p.R233M

c.698G>T

1 paper

NM_001126328.3

p.R248W

c.742A>T

1 paper

NM_001126328.3

p.A256T

c.766G>A