Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3E
Variant:p.V518I

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
4 papers
NM_001178129.2
p.V518I
c.1552G>A
NM_012431.3
p.V578I
c.1732G>A
Surrounding Variants
1 paper
NM_012431.3
p.Q576E
c.1726C>G
2 papers
NM_012431.3
p.D580N
c.1738G>A
1 paper
NM_012431.3
p.G592D
c.1775G>A
1 paper
NM_012431.3
p.N596N
c.1788C>T
1 paper
NM_012431.3
p.T598N
c.1793C>A
1 paper
NM_012431.3
p.E601delFs
c.1801delC
1 paper
NM_012431.3
p.C602C
c.1806T>C
1 paper
NM_012431.3
p.T603T
c.1809C>A
1 paper
NM_012431.3
p.P604L
c.1811C>T
1 paper
NM_012431.3
p.I612F
c.1834A>T
6 papers
NM_012431.3
p.R619C
c.1855C>T
1 paper
NM_012431.3
p.R622*
c.1864A>T
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