Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.R637H

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
4 papers
NM_006080.3
p.R637H
c.1910G>A
Surrounding Variants
1 paper
NM_006080.3
p.T630_R637del8
c.1888_1910del24
1 paper
NM_006080.3
p.L639L
c.1917A>G
1 paper
NM_006080.3
p.Q640R
c.1919A>G
1 paper
NM_006080.3
p.Q641L
c.1922A>T
1 paper
NM_006080.3
p.V652M
c.1954G>A
1 paper
NM_006080.3
p.R622*
c.1864A>T
2 papers
NM_006080.3
p.I657M
c.1971A>G
2 papers
NM_006080.3
p.I668V
c.2002A>G
1 paper
NM_006080.3
p.D669N
c.2005G>A
4 papers
NM_006080.3
p.T688A
c.2062A>G
1 paper
NM_006080.3
p.M691T
c.2072T>C
1 paper
NM_006080.3
p.N693S
c.2078A>G
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