Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3E
Variant:p.R546W

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.R546W
c.1636C>T
Surrounding Variants
1 paper
NM_012431.3
p.C544S
c.1631G>C
1 paper
NM_012431.3
p.C544S
c.1630T>A
1 paper
NM_012431.3
p.T550I
c.1649C>T
1 paper
NM_012431.3
p.G541G
c.1623C>T
1 paper
NM_012431.3
p.R515I
c.1544G>T
1 paper
NM_012431.3
p.R500R
c.1500G>T
5 papers
NM_012431.3
p.R500W
c.1498C>T
1 paper
NM_012431.3
p.S497insFs
c.1491dupT
1 paper
NM_012431.3
p.K486_D487Splc
c.1459-1G>A
2 papers
NM_012431.3
p.K486N
c.1458G>T
2 papers
NM_012431.3
p.K486N
c.1458G>C
1 paper
NM_012431.3
p.V477I
c.1429G>A
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