Varaico: Literature-Extracted Genetic Variants

Gene:UNC5C
Variant:p.D747N

UNC5C

144 papers

RefSeq Summary

This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins...

Pfam Domains

Unc5_NetrinR_Naa 56–160UCSCNetrin receptor unc-5 N-terminal domain
I-setaa 167–257UCSCImmunoglobulin I-set domain
TSP_1aa 264–313UCSCThrombospondin type 1 domain
TSP_1aa 317–367UCSCThrombospondin type 1 domain
ZU5aa 532–628UCSCZU5 domain
UPAaa 678–817UCSCUPA domain

Gene Aliases

HGNC Name

unc-5 netrin receptor C

HGNC Previous Names

unc5 (C.elegans homolog) c; unc-5 homolog C (C. elegans)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003728.4
p.D747N
c.2239G>A
Surrounding Variants
2 papers
NM_003728.4
p.D747G
c.2240A>G
1 paper
NM_003728.4
p.R742H
c.2225G>A
1 paper
NM_003728.4
p.S737N
c.2210G>A
1 paper
NM_003728.4
p.F734I
c.2200T>A
1 paper
NM_003728.4
p.E727K
c.2179G>A
1 paper
NM_003728.4
p.L726Q
c.2177T>A
1 paper
NM_003728.4
p.M721I
c.2163G>T
1 paper
NM_003728.4
p.M721I
c.2163G>C
1 paper
NM_003728.4
p.M721I
c.2163G>A
6 papers
NM_003728.4
p.M721T
c.2162T>C
1 paper
NM_003728.4
p.C795S
c.2383T>A
1 paper
NM_003728.4
p.C795S
c.2384G>C
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