Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D

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
1–12 of 122 variants
10 papers
NM_001384900.1
p.K701Q
c.2101A>C
5 papers
NM_001384900.1
p.S65P
c.193T>C
5 papers
NM_001384900.1
p.P615T
c.1843C>A
4 papers
NM_001384900.1
p.H424Q
c.1272C>G
4 papers
NM_001384900.1
p.H424Q
c.1272C>A
4 papers
NM_001384900.1
p.P580S
c.1738C>T
4 papers
NM_001384900.1
p.R634Q
c.1901G>A
2 papers
NM_001384900.1
p.E198K
c.592G>A
2 papers
NM_001384900.1
p.D380H
c.1138G>C
2 papers
NM_001384900.1
p.R523*
c.1567C>T
2 papers
NM_001384900.1
p.C613_I614delFs
c.1838_1841del4
2 papers
NM_001384900.1
p.N744K
c.2232C>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."