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.S701R

c.2103C>G

Surrounding Variants

1 paper

NM_015009.3

p.S701R

c.2103C>A

1 paper

NM_015009.3

p.S701R

c.2101A>C

1 paper

NM_015009.3

p.R727C

c.2179C>T

1 paper

NM_015009.3

p.R727H

c.2180G>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.G663S

c.1987G>A

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.S741S

c.2223A>G

2 papers

NM_015009.3

p.A659T

c.1975G>A

1 paper

NM_015009.3

p.E748K

c.2242G>A