Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3E
Variant:p.S160L

SEMA3E

164 papers

RefSeq Summary

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-t...

Pfam Domains

Semaaa 309–498UCSCSema domain
igaa 588–667UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

semaphorin 3E

HGNC Previous Symbol

SEMAH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012431.3
p.S160L
c.479C>T
Surrounding Variants
1 paper
NM_012431.3
p.E159Q
c.475G>C
1 paper
NM_012431.3
p.E164*
c.490G>T
1 paper
NM_012431.3
p.R167G
c.499A>G
1 paper
NM_012431.3
p.R169K
c.506G>A
4 papers
NM_012431.3
p.P171S
c.511C>T
1 paper
NM_012431.3
p.P171insFs
c.512_513insGC
1 paper
NM_012431.3
p.L187W
c.560T>G
1 paper
NM_012431.3
p.L187*
c.560T>A
1 paper
NM_012431.3
p.G190E
c.569G>A
1 paper
NM_012431.3
p.G190G
c.570A>T
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