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.H152Y

c.454C>T

Surrounding Variants

1 paper

NM_015009.3

p.G153G

c.459C>T

1 paper

NM_015009.3

p.G159R

c.475G>C

1 paper

NM_015009.3

p.A163V

c.488C>T

1 paper

NM_015009.3

p.A163E

c.488C>A

1 paper

NM_015009.3

p.R164*

c.490C>T

1 paper

NM_015009.3

p.R164G

c.490C>G

2 papers

NM_015009.3

p.G159_H169delFs

c.477_505del29

1 paper

NM_015009.3

p.D132N

c.394G>A

1 paper

NM_015009.3

p.A172V

c.515C>T

1 paper

NM_015009.3

p.R131C

c.391C>T

1 paper

NM_015009.3

p.L122L

c.364C>T

1 paper

NM_015009.3

p.E187D

c.561G>T