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.Q129L

c.386A>T

Surrounding Variants

1 paper

NM_170744.5

p.V117M

c.349G>A

1 paper

NM_170744.5

p.Q116*

c.346C>T

1 paper

NM_170744.5

p.R143R

c.429A>T

1 paper

NM_170744.5

p.S113L

c.338C>T

1 paper

NM_170744.5

p.E111*

c.331G>T

2 papers

NM_170744.5

p.Q109*

c.325C>T

1 paper

NM_170744.5

p.G102Splc

c.305-277C>T

1 paper

NM_170744.5

p.R175H

c.524G>A

1 paper

NM_170744.5

p.P177L

c.530C>T

1 paper

NM_170744.5

p.E184_V185Splc

c.553-2A>T

1 paper

NM_170744.5

p.E186E

c.558A>G

1 paper

NM_170744.5

p.K189N

c.567G>C