Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.I710M

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.I710M
c.2130C>G
Surrounding Variants
1 paper
NM_006080.3
p.P713A
c.2137C>G
1 paper
NM_006080.3
p.M707fs
c.2119_2120fs
4 papers
NM_006080.3
p.T717I
c.2150C>T
1 paper
NM_006080.3
p.R704G
c.2110A>G
1 paper
NM_006080.3
p.T717T
c.2151A>G
1 paper
NM_006080.3
p.F721L
c.2161T>C
1 paper
NM_006080.3
p.K700E
c.2098A>G
1 paper
NM_006080.3
p.F721L
c.2163C>G
1 paper
NM_006080.3
p.F721L
c.2163C>A
1 paper
NM_006080.3
p.N693S
c.2078A>G
1 paper
NM_006080.3
p.M691T
c.2072T>C
5 papers
NM_006080.3
p.R730Q
c.2189G>A
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