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

1–12 of 158 variants

3 papers

NM_015009.3

p.G570S

c.1708G>A

2 papers

NM_015009.3

p.R111C

c.331C>T

2 papers

NM_015009.3

p.H152Y

c.454C>T

2 papers

NM_015009.3

p.G159_H169delFs

c.477_505del29

2 papers

NM_015009.3

p.R463C

c.1387C>T

2 papers

NM_015009.3

p.R469H

c.1406G>A

2 papers

NM_015009.3

p.A659T

c.1975G>A

2 papers

NM_015009.3

p.A783V

c.2348C>T

1 paper

NM_015009.3

p.M1insFs

c.2dupT

1 paper

NM_015009.3

p.D6E

c.18C>A

1 paper

NM_015009.3

p.P14S

c.40C>T

1 paper

NM_015009.3

p.D27G

c.80A>G