Varaico: Literature-Extracted Genetic Variants

Gene:UNC5C
Variant:p.S232C

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.S232C
c.695C>G
Surrounding Variants
2 papers
NM_003728.4
p.N223I
c.668A>T
1 paper
NM_003728.4
p.D221Y
c.661G>T
1 paper
NM_003728.4
p.E212K
c.634G>A
1 paper
NM_003728.4
p.I256L
c.766A>T
1 paper
NM_003728.4
p.I256L
c.766A>C
1 paper
NM_003728.4
p.W269*
c.806G>A
1 paper
NM_003728.4
p.R275H
c.824G>A
1 paper
NM_003728.4
p.R278P
c.833G>C
1 paper
NM_003728.4
p.S303T
c.908G>C
1 paper
NM_003728.4
p.T311M
c.932C>T
1 paper
NM_003728.4
p.W322*
c.965G>A
1 paper
NM_003728.4
p.W322*
c.966G>A
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