Varaico: Literature-Extracted Genetic Variants

Gene:UNC5C
Variant:p.C332R

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.C332R
c.994T>C
Surrounding Variants
1 paper
NM_003728.4
p.T333P
c.997A>C
1 paper
NM_003728.4
p.H334fs
c.1000_1001fs
1 paper
NM_003728.4
p.R336C
c.1006C>T
1 paper
NM_003728.4
p.R336H
c.1007G>A
1 paper
NM_003728.4
p.C340Y
c.1019G>A
1 paper
NM_003728.4
p.W322*
c.966G>A
1 paper
NM_003728.4
p.W322*
c.965G>A
5 papers
NM_003728.4
p.D353N
c.1057G>A
1 paper
NM_003728.4
p.T311M
c.932C>T
1 paper
NM_003728.4
p.S303T
c.908G>C
1 paper
NM_003728.4
p.R278P
c.833G>C
1 paper
NM_003728.4
p.R275H
c.824G>A
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