Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.E589Q

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.E589Q
c.1765G>C
Surrounding Variants
1 paper
NM_006080.3
p.Y586C
c.1757A>G
2 papers
NM_006080.3
p.S598G
c.1792A>G
2 papers
NM_006080.3
p.K600M
c.1799A>T
1 paper
NM_006080.3
p.S601L
c.1802C>T
1 paper
NM_006080.3
p.S601delFs
c.1801delA
1 paper
NM_006080.3
p.Y607Y
c.1821T>C
1 paper
NM_006080.3
p.R613L
c.1838G>T
1 paper
NM_006080.3
p.R613Q
c.1838G>A
1 paper
NM_006080.3
p.R617*
c.1849C>T
7 papers
NM_006080.3
p.R617Q
c.1850G>A
1 paper
NM_006080.3
p.K618N
c.1854A>T
1 paper
NM_006080.3
p.K618N
c.1854A>C
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