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.P542R

c.1625C>G

Surrounding Variants

1 paper

NM_001126328.3

p.G543R

c.1627G>C

1 paper

NM_001126328.3

p.G543R

c.1627G>A

1 paper

NM_001126328.3

p.C503Y

c.1508G>A

1 paper

NM_001126328.3

p.I557V

c.1669A>G

1 paper

NM_001126328.3

p.A574S

c.1720G>T

1 paper

NM_001126328.3

p.P616T

c.1846C>A

1 paper

NM_001126328.3

p.D618N

c.1852G>A

1 paper

NM_001126328.3

p.L629*

c.1886T>G

1 paper

NM_001126328.3

p.L629*

c.1886T>A

1 paper

NM_001126328.3

p.R631Q

c.1892G>A

1 paper

NM_001126328.3

p.R631Splc

c.1892+1G>A

1 paper

NM_001126328.3

p.R455H

c.1364G>A