Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.L308L

SEMA3D

105 papers

RefSeq Summary

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema d...

Pfam Domains

Semaaa 325–513UCSCSema domain
Ig_6aa 595–700UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

semaphorin 3D

HGNC Alias Symbols

coll-2; Sema-Z2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384900.1
p.L308L
c.924G>T
Surrounding Variants
1 paper
NM_001384900.1
p.G314*
c.940G>T
1 paper
NM_001384900.1
p.R294C
c.880C>T
1 paper
NM_001384900.1
p.G343R
c.1027G>C
1 paper
NM_001384900.1
p.G343R
c.1027G>A
1 paper
NM_001384900.1
p.V344L
c.1030G>C
1 paper
NM_001384900.1
p.H375Y
c.1123C>T
2 papers
NM_001384900.1
p.D380H
c.1138G>C
1 paper
NM_001384900.1
p.D387N
c.1159G>A
1 paper
NM_001384900.1
p.T397A
c.1189A>G
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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."