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

1–12 of 90 variants

3 papers

NM_170744.5

p.S32T

c.95G>C

2 papers

NM_170744.5

p.Q109*

c.325C>T

2 papers

NM_170744.5

p.V245M

c.733G>A

2 papers

NM_170744.5

p.T341M

c.1022C>T

2 papers

NM_170744.5

p.V739M

c.2215G>A

2 papers

NM_170744.5

p.R755H

c.2264G>A

1 paper

NM_170744.5

p.A3D

c.8C>A

1 paper

NM_170744.5

p.L12M

c.34C>A

1 paper

NM_170744.5

p.L12insFs

c.34_35insTG

1 paper

NM_170744.5

p.G27Splc

c.79+12443G>A

1 paper

NM_170744.5

p.G27Splc

c.79+21694C>T

1 paper

NM_170744.5

p.G27Splc

c.80-87G>A