Varaico: Literature-Extracted Genetic Variants

UNC5A

52 papers

RefSeq Summary

UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[...

Pfam Domains

Unc5_NetrinR_Naa 38–142UCSCNetrin receptor unc-5 N-terminal domain

I-setaa 149–239UCSCImmunoglobulin I-set domain

ZU5aa 443–539UCSCZU5 domain

UPAaa 589–728UCSCUPA domain

Deathaa 760–833UCSCDeath domain

Gene Aliases

HGNC Name

unc-5 netrin receptor A

HGNC Alias Symbols

KIAA1976; UNC5H1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133369.3

p.V547delFs

c.1639delG

Surrounding Variants

1 paper

NM_133369.3

p.V547fs

c.1639_1640fs

1 paper

NM_133369.3

p.V570I

c.1708G>A

1 paper

NM_133369.3

p.G576D

c.1727G>A

2 papers

NM_133369.3

p.A590T

c.1768G>A

1 paper

NM_133369.3

p.H619N

c.1855C>A

1 paper

NM_133369.3

p.A621S

c.1861G>T

1 paper

NM_133369.3

p.K623_E624Splc

c.1869+23C>A

1 paper

NM_133369.3

p.I517N

c.1550T>A

1 paper

NM_133369.3

p.P507L

c.1520C>T

1 paper

NM_133369.3

p.Q673_E674Splc

c.2020-10T>A

1 paper

NM_133369.3

p.Y476*

c.1428T>A

1 paper

NM_133369.3

p.Y476*

c.1428T>G