Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.R552H

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.R552H
c.1655G>A
Surrounding Variants
5 papers
NM_006080.3
p.R552C
c.1654C>T
3 papers
NM_006080.3
p.R551Splc
c.1653-6C>T
1 paper
NM_006080.3
p.R555*
c.1663C>T
1 paper
NM_006080.3
p.T565_H566insFs
c.1695_1696insT
1 paper
NM_006080.3
p.H566R
c.1697A>G
1 paper
NM_006080.3
p.Y545C
c.1634A>G
1 paper
NM_006080.3
p.R544P
c.1631G>C
1 paper
NM_006080.3
p.R544H
c.1631G>A
2 papers
NM_006080.3
p.R544C
c.1630C>T
1 paper
NM_006080.3
p.D538_C542delFs
c.1613_1626del14
1 paper
NM_006080.3
p.D538fs
c.1612_1613fs
1 paper
NM_006080.3
p.D538fs
c.1612_1613fs
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