Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.Q618K

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.Q618K
c.1852C>A
Surrounding Variants
5 papers
NM_001384900.1
p.P615T
c.1843C>A
2 papers
NM_001384900.1
p.C613_I614delFs
c.1838_1841del4
1 paper
NM_001384900.1
p.E605del1
c.1813_1814delTTC
1 paper
NM_001384900.1
p.D631G
c.1892A>G
1 paper
NM_001384900.1
p.G603_I604delFs
c.1807_1810del4
1 paper
NM_001384900.1
p.G603fs
c.1807_1808fs
1 paper
NM_001384900.1
p.F602_G603insFs
c.1806_1807ins7
1 paper
NM_001384900.1
p.F602L
c.1806T>G
1 paper
NM_001384900.1
p.F602L
c.1806T>A
1 paper
NM_001384900.1
p.F602L
c.1804T>C
4 papers
NM_001384900.1
p.R634Q
c.1901G>A
1 paper
NM_001384900.1
p.E635A
c.1904A>C
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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."