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.M995I

c.2985G>A

Surrounding Variants

1 paper

NM_015009.3

p.M995I

c.2985G>T

1 paper

NM_015009.3

p.M995I

c.2985G>C

1 paper

NM_015009.3

p.S998N

c.2993G>A

1 paper

NM_015009.3

p.R991W

c.2971C>T

1 paper

NM_015009.3

p.K1023N

c.3069A>T

1 paper

NM_015009.3

p.K1023N

c.3069A>C

1 paper

NM_015009.3

p.S965N

c.2894G>A

1 paper

NM_015009.3

p.K1027N

c.3081G>T

1 paper

NM_015009.3

p.K1027N

c.3081G>C

1 paper

NM_015009.3

p.D960N

c.2878G>A

1 paper

NM_015009.3

p.T958I

c.2873C>T

1 paper

NM_015009.3

p.T1039M

c.3116C>T