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.V231M

c.691G>A

Surrounding Variants

1 paper

NM_170744.5

p.R235Q

c.704G>A

1 paper

NM_170744.5

p.V241I

c.721G>A

1 paper

NM_170744.5

p.I242V

c.724A>G

1 paper

NM_170744.5

p.V243I

c.727G>A

1 paper

NM_170744.5

p.Y244Y

c.732C>T

2 papers

NM_170744.5

p.V245M

c.733G>A

1 paper

NM_170744.5

p.R216H

c.647G>A

1 paper

NM_170744.5

p.V245Splc

c.733+5G>A

1 paper

NM_170744.5

p.A215S

c.643G>T

1 paper

NM_170744.5

p.I211M

c.633C>G

1 paper

NM_170744.5

p.D192N

c.574G>A

1 paper

NM_170744.5

p.K189N

c.567G>C