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.D776E

c.2328C>G

Surrounding Variants

1 paper

NM_015009.3

p.D776E

c.2328C>A

1 paper

NM_015009.3

p.N777N

c.2331C>T

1 paper

NM_015009.3

p.R781G

c.2341A>G

2 papers

NM_015009.3

p.A783V

c.2348C>T

1 paper

NM_015009.3

p.P768P

c.2304G>A

1 paper

NM_015009.3

p.P789L

c.2366C>T

1 paper

NM_015009.3

p.E762D

c.2286G>T

1 paper

NM_015009.3

p.E762D

c.2286G>C

1 paper

NM_001303139.2

p.S454R

c.1362C>G

1 paper

NM_001303139.2

p.S454R

c.1362C>A

1 paper

NM_001303139.2

p.S454R

c.1360A>C

1 paper

NM_015009.3

p.T798M

c.2393C>T