Varaico: Literature-Extracted Genetic Variants

PDZRN3

113 papers

RefSeq Summary

This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, os...

Pfam Domains

zf-C3HC4_2aa 17–56UCSCZinc finger, C3HC4 type (RING finger)

PDZaa 76–158UCSCPDZ domain

PDZaa 249–336UCSCPDZ domain

Gene Aliases

HGNC Name

PDZ domain containing ring finger 3

HGNC Alias Symbols

KIAA1095; SEMACAP3; LNX3; SEMCAP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015009.3

p.R931H

c.2792G>A

Surrounding Variants

1 paper

NM_015009.3

p.K935R

c.2804A>G

1 paper

NM_015009.3

p.R939W

c.2815C>T

1 paper

NM_015009.3

p.R918H

c.2753G>A

1 paper

NM_015009.3

p.R946H

c.2837G>A

1 paper

NM_015009.3

p.P914A

c.2740C>G

1 paper

NM_015009.3

p.P912T

c.2734C>A

1 paper

NM_015009.3

p.R951Q

c.2852G>A

1 paper

NM_015009.3

p.T958I

c.2873C>T

1 paper

NM_015009.3

p.D960N

c.2878G>A

1 paper

NM_015009.3

p.M900I

c.2700G>T

1 paper

NM_015009.3

p.M900I

c.2700G>C

1 paper

NM_015009.3

p.M900I

c.2700G>A