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

2 papers

NM_015009.3

p.A659T

c.1975G>A

Surrounding Variants

1 paper

NM_015009.3

p.Y662*

c.1986C>G

1 paper

NM_015009.3

p.Y662*

c.1986C>A

1 paper

NM_015009.3

p.G663S

c.1987G>A

1 paper

NM_015009.3

p.Y666*

c.1998C>G

1 paper

NM_015009.3

p.Y666*

c.1998C>A

1 paper

NM_015009.3

p.L650Q

c.1949T>A

1 paper

NM_015009.3

p.E648K

c.1942G>A

1 paper

NM_015009.3

p.R645H

c.1934G>A

1 paper

NM_015009.3

p.P639P

c.1917G>A

1 paper

NM_015009.3

p.F625L

c.1875C>G

1 paper

NM_015009.3

p.F625L

c.1875C>A

1 paper

NM_015009.3

p.F625Y

c.1874T>A