Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3C
Variant:p.P267L

SEMA3C

84 papers

RefSeq Summary

This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-l...

Pfam Domains

Semaaa 305–493UCSCSema domain
I-setaa 579–661UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

semaphorin 3C

HGNC Previous Symbol

SEMAE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006379.5
p.P267L
c.800C>T
Surrounding Variants
1 paper
NM_006379.5
p.P267_N268Splc
c.801+2T>C
1 paper
NM_006379.5
p.T255M
c.764C>T
1 paper
NM_006379.5
p.F242Y
c.725T>A
1 paper
NM_006379.5
p.V240M
c.718G>A
1 paper
NM_006379.5
p.D237N
c.709G>A
1 paper
NM_006379.5
p.A286V
c.857C>T
1 paper
NM_006379.5
p.G297S
c.889G>A
1 paper
NM_006379.5
p.L305F
c.915A>T
1 paper
NM_006379.5
p.L305F
c.915A>C
2 papers
NM_006379.5
p.A207V
c.620C>T
1 paper
NM_006379.5
p.R200*
c.598C>T
1 paper
NM_006379.5
p.P316Q
c.947C>A
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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."