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

1 paper

NM_001126328.3

p.A369D

c.1106C>A

Surrounding Variants

1 paper

NM_001126328.3

p.R362H

c.1085G>A

1 paper

NM_001126328.3

p.F361I

c.1081T>A

1 paper

NM_001126328.3

p.K360R

c.1079A>G

1 paper

NM_001126328.3

p.Q359*

c.1075C>T

1 paper

NM_001126328.3

p.V350G

c.1049T>G

2 papers

NM_001126328.3

p.E390K

c.1168G>A

2 papers

NM_001126328.3

p.R345W

c.1033C>T

1 paper

NM_001126328.3

p.R342H

c.1025G>A

1 paper

NM_001126328.3

p.R342C

c.1024C>T

1 paper

NM_001126328.3

p.Y339F

c.1016A>T

1 paper

NM_001126328.3

p.G414G

c.1242C>T

1 paper

NM_001126328.3

p.G415S

c.1243G>A