Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3E
Variant:p.N753H

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.N753H
c.2257A>C
Surrounding Variants
1 paper
NM_012431.3
p.P754delFs
c.2260delG
1 paper
NM_012431.3
p.Q755E
c.2263C>G
1 paper
NM_012431.3
p.K748R
c.2243A>G
1 paper
NM_012431.3
p.L742I
c.2224C>A
2 papers
NM_012431.3
p.R737R
c.2211A>G
1 paper
NM_012431.3
p.C734C
c.2202C>T
1 paper
NM_012431.3
p.T772M
c.2315C>T
1 paper
NM_012431.3
p.E730*
c.2188G>T
1 paper
NM_012431.3
p.Y728delFs
c.2184delG
1 paper
NM_012431.3
p.G718S
c.2152G>A
3 papers
NM_012431.3
p.I717V
c.2149A>G
1 paper
NM_012431.3
p.Q715K
c.2143C>A
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