Varaico: Literature-Extracted Genetic Variants

UNC5B

81 papers

RefSeq Summary

This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a gro...

Pfam Domains

Unc5_NetrinR_Naa 42–146UCSCNetrin receptor unc-5 N-terminal domain

I-setaa 153–243UCSCImmunoglobulin I-set domain

TSP_1aa 250–299UCSCThrombospondin type 1 domain

TSP_1aa 306–353UCSCThrombospondin type 1 domain

ZU5aa 545–641UCSCZU5 domain

UPAaa 691–830UCSCUPA domain

Gene Aliases

HGNC Name

unc-5 netrin receptor B

HGNC Alias Symbols

UNC5H2; p53RDL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170744.5

p.R271W

c.811C>T

Surrounding Variants

1 paper

NM_170744.5

p.R271R

c.813G>A

1 paper

NM_170744.5

p.C273delFs

c.819delC

1 paper

NM_170744.5

p.P276H

c.827C>A

1 paper

NM_170744.5

p.E286*

c.856G>T

1 paper

NM_170744.5

p.Q288R

c.863A>G

1 paper

NM_170744.5

p.W249*

c.747G>A

1 paper

NM_170744.5

p.W249*

c.746G>A

1 paper

NM_170744.5

p.V301Splc

c.901+33C>T

1 paper

NM_170744.5

p.V245Splc

c.734-173G>A

1 paper

NM_170744.5

p.V245Splc

c.733+5G>A

2 papers

NM_170744.5

p.V245M

c.733G>A

1 paper

NM_170744.5

p.Y244Y

c.732C>T