Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.H532L

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.H532L
c.1595A>T
Surrounding Variants
1 paper
NM_001384900.1
p.S530F
c.1589C>T
1 paper
NM_001384900.1
p.Q528R
c.1583A>G
2 papers
NM_001384900.1
p.R523*
c.1567C>T
1 paper
NM_001384900.1
p.C541C
c.1623C>T
1 paper
NM_001384900.1
p.G521D
c.1562G>A
1 paper
NM_001384900.1
p.D549Y
c.1645G>T
1 paper
NM_001384900.1
p.P550T
c.1648C>A
1 paper
NM_001384900.1
p.Q515_Q516Splc
c.1546-9G>A
1 paper
NM_001384900.1
p.R568Splc
c.1703+28G>C
1 paper
NM_001384900.1
p.A570A
c.1710T>C
1 paper
NM_001384900.1
p.R572H
c.1715G>A
1 paper
NM_001384900.1
p.D574Y
c.1720G>T
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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."