Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.K701Q

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
10 papers
NM_001384900.1
p.K701Q
c.2101A>C
Surrounding Variants
1 paper
NM_001384900.1
p.K701N
c.2103G>T
1 paper
NM_001384900.1
p.R710Q
c.2129G>A
1 paper
NM_001384900.1
p.K714T
c.2141A>C
1 paper
NM_001384900.1
p.I719I
c.2157C>T
1 paper
NM_001384900.1
p.L681F
c.2043G>T
1 paper
NM_001384900.1
p.L681F
c.2043G>C
1 paper
NM_001384900.1
p.I676T
c.2027T>C
1 paper
NM_001384900.1
p.D728H
c.2182G>C
1 paper
NM_001384900.1
p.E732K
c.2194G>A
1 paper
NM_001384900.1
p.E669K
c.2005G>A
1 paper
NM_001384900.1
p.Y664*
c.1992C>G
1 paper
NM_001384900.1
p.Y664*
c.1992C>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."