Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.N444S

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.N444S
c.1331A>G
Surrounding Variants
1 paper
NM_001384900.1
p.P438S
c.1312C>T
1 paper
NM_001384900.1
p.V457I
c.1369G>A
4 papers
NM_001384900.1
p.H424Q
c.1272C>G
4 papers
NM_001384900.1
p.H424Q
c.1272C>A
1 paper
NM_001384900.1
p.R423Q
c.1268G>A
1 paper
NM_001384900.1
p.R411*
c.1231C>T
1 paper
NM_001384900.1
p.P405L
c.1214C>T
1 paper
NM_001384900.1
p.W487L
c.1460G>T
1 paper
NM_001384900.1
p.H502L
c.1505A>T
1 paper
NM_001384900.1
p.M509insFs
c.1525_1526insA
1 paper
NM_001384900.1
p.M509fs
c.1525_1526fs
1 paper
NM_001384900.1
p.Q515_Q516Splc
c.1545+91G>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."