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.K693_R694delFs

c.2078_2081del4

Surrounding Variants

1 paper

NM_170744.5

p.L704_C705delFs

c.2111_2114del4

1 paper

NM_170744.5

p.P721S

c.2161C>T

1 paper

NM_170744.5

p.L652L

c.1956G>A

1 paper

NM_170744.5

p.D632E

c.1896C>A

1 paper

NM_170744.5

p.D632E

c.1896C>G

1 paper

NM_170744.5

p.P617S

c.1849C>T

1 paper

NM_170744.5

p.S604L

c.1811C>T

1 paper

NM_170744.5

p.K576K

c.1728G>A

2 papers

NM_170744.5

p.V739M

c.2215G>A

1 paper

NM_170744.5

p.S750_S757insFs

c.2249_2270dup22

2 papers

NM_170744.5

p.R755H

c.2264G>A

1 paper

NM_170744.5

p.Y774H

c.2320T>C