Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3B
Variant:p.V117A

SEMA3B

43 papers

RefSeq Summary

The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal exte...

Pfam Domains

Semaaa 307–495UCSCSema domain
igaa 579–657UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

semaphorin 3B

HGNC Previous Symbol

SEMAA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001290060.2
p.V117A
c.350T>C
Surrounding Variants
1 paper
NM_001290060.2
p.E112A
c.335A>C
1 paper
NM_001290060.2
p.T111N
c.332C>A
1 paper
NM_001290060.2
p.H127N
c.379C>A
1 paper
NM_001290060.2
p.E150D
c.450G>C
1 paper
NM_001290060.2
p.E150D
c.450G>T
1 paper
NM_001290060.2
p.L154F
c.460C>T
1 paper
NM_001290060.2
p.L154L
c.462C>T
1 paper
NM_001290060.2
p.S168G
c.502A>G
1 paper
NM_001290060.2
p.C102W
c.306C>G
1 paper
NM_001290060.2
p.P93A
c.277C>G
1 paper
NM_001290060.2
p.R196*
c.586C>T
1 paper
NM_001290060.2
p.D81_N82insC
c.241_245ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."