Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.R419C

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.R419C
c.1255C>T
Surrounding Variants
1 paper
NM_006080.3
p.R419H
c.1256G>A
4 papers
NM_006080.3
p.N418S
c.1253A>G
1 paper
NM_006080.3
p.P420S
c.1258C>T
1 paper
NM_006080.3
p.P420_I423del4
c.1258_1268del12
1 paper
NM_006080.3
p.V427L
c.1279G>T
1 paper
NM_006080.3
p.V427L
c.1279G>C
1 paper
NM_006080.3
p.Q430E
c.1288C>G
1 paper
NM_006080.3
p.P407L
c.1220C>T
1 paper
NM_006080.3
p.Q433fs
c.1297_1298fs
1 paper
NM_006080.3
p.I434I
c.1302T>C
19 papers
NM_006080.3
p.V435I
c.1303G>A
4 papers
NM_006080.3
p.I434_V435delins
c.1302_1303delinsCA
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