Varaico: Literature-Extracted Genetic Variants

Gene:UNC5C
Variant:p.Q630E

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
3 papers
NM_003728.4
p.Q630E
c.1888C>G
Surrounding Variants
2 papers
NM_003728.4
p.A628E
c.1883C>A
1 paper
NM_003728.4
p.A628delins
c.1882_1883delinsAA
1 paper
NM_003728.4
p.A628T
c.1882G>A
1 paper
NM_003728.4
p.N626D
c.1876A>G
2 papers
NM_003728.4
p.T617I
c.1850C>T
1 paper
NM_003728.4
p.A613S
c.1837G>T
1 paper
NM_003728.4
p.P604S
c.1810C>T
4 papers
NM_003728.4
p.R603C
c.1807C>T
1 paper
NM_003728.4
p.C594Y
c.1781G>A
1 paper
NM_003728.4
p.A654T
c.1960G>A
1 paper
NM_003728.4
p.A656T
c.1966G>A
2 papers
NM_003728.4
p.A668T
c.2002G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."