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.D27G

c.80A>G

Surrounding Variants

1 paper

NM_015009.3

p.A39T

c.115G>A

1 paper

NM_015009.3

p.P14S

c.40C>T

1 paper

NM_015009.3

p.W45R

c.133T>C

1 paper

NM_015009.3

p.W45R

c.133T>A

1 paper

NM_015009.3

p.D6E

c.18C>A

1 paper

NM_015009.3

p.Q48L

c.143A>T

1 paper

NM_015009.3

p.E49V

c.146A>T

1 paper

NM_015009.3

p.C52*

c.156C>A

1 paper

NM_015009.3

p.M1insFs

c.2dupT

1 paper

NM_015009.3

p.R57H

c.170G>A

1 paper

NM_015009.3

p.R59R

c.177C>T

1 paper

NM_015009.3

p.K63R

c.188A>G