Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.D532A

SEMA3A

225 papers

RefSeq Summary

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either ...

Pfam Domains

Semaaa 308–496UCSCSema domain
Ig_6aa 568–674UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

semaphorin 3A

HGNC Previous Symbol

SEMAD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006080.3
p.D532A
c.1595A>C
Surrounding Variants
1 paper
NM_006080.3
p.C535F
c.1604G>T
1 paper
NM_006080.3
p.D538fs
c.1612_1613fs
1 paper
NM_006080.3
p.D538fs
c.1612_1613fs
1 paper
NM_006080.3
p.D538_C542delFs
c.1613_1626del14
1 paper
NM_006080.3
p.G521G
c.1563G>C
1 paper
NM_006080.3
p.G521R
c.1561G>C
1 paper
NM_006080.3
p.G521R
c.1561G>A
2 papers
NM_006080.3
p.R544C
c.1630C>T
1 paper
NM_006080.3
p.R544P
c.1631G>C
1 paper
NM_006080.3
p.R544H
c.1631G>A
1 paper
NM_006080.3
p.Y520F
c.1559A>T
1 paper
NM_006080.3
p.Y545C
c.1634A>G
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