Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.D186N

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.D186N
c.556G>A
Surrounding Variants
1 paper
NM_001384900.1
p.F185_D186insT
c.553_557ins3
1 paper
NM_001384900.1
p.Q189K
c.565C>A
1 paper
NM_001384900.1
p.R180K
c.539G>A
1 paper
NM_001384900.1
p.D197Splc
c.589+2T>A
1 paper
NM_001384900.1
p.D197Splc
c.589+37G>A
1 paper
NM_001384900.1
p.E165_D166Splc
c.496-12T>C
1 paper
NM_001384900.1
p.D197Splc
c.590-33T>A
2 papers
NM_001384900.1
p.E198K
c.592G>A
1 paper
NM_001384900.1
p.Y199S
c.596A>C
1 paper
NM_001384900.1
p.S202delFs
c.605delG
1 paper
NM_001384900.1
p.T222A
c.664A>G
1 paper
NM_001384900.1
p.Y227N
c.679T>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."