Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3E
Variant:p.F246L

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.F246L
c.738C>A
Surrounding Variants
1 paper
NM_012431.3
p.F246L
c.738C>G
1 paper
NM_012431.3
p.F246L
c.736T>C
1 paper
NM_012431.3
p.E250*
c.748G>T
5 papers
NM_001178129.2
p.E194Q
c.580G>C
NM_012431.3
p.E254Q
c.760G>C
1 paper
NM_012431.3
p.E254V
c.761A>T
1 paper
NM_012431.3
p.E254delFs
c.761delT
1 paper
NM_012431.3
p.A255V
c.764C>T
1 paper
NM_012431.3
p.E256K
c.766G>A
1 paper
NM_012431.3
p.H260Q
c.780C>G
1 paper
NM_012431.3
p.H260Q
c.780C>A
2 papers
NM_012431.3
p.S230L
c.689C>T
1 paper
NM_012431.3
p.I262delFs
c.785delA
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