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_001303139.2

p.D151E

c.453C>A

Surrounding Variants

1 paper

NM_001303139.2

p.D151E

c.453C>G

1 paper

NM_001303139.2

p.N153N

c.459C>T

1 paper

NM_015009.3

p.A458A

c.1374A>G

2 papers

NM_015009.3

p.R463C

c.1387C>T

2 papers

NM_015009.3

p.R469H

c.1406G>A

1 paper

NM_015009.3

p.D444N

c.1330G>A

1 paper

NM_015009.3

p.L431L

c.1293G>A

1 paper

NM_015009.3

p.L422F

c.1264C>T

1 paper

NM_015009.3

p.Q472_I473Splc

c.1417-10T>C

1 paper

NM_015009.3

p.I473insFs

c.1417_1418insA

1 paper

NM_015009.3

p.E477Q

c.1429G>C

1 paper

NM_015009.3

p.W511C

c.1533G>T