Varaico: Literature-Extracted Genetic Variants

Gene:SEMA7A
Variant:p.E569K

SEMA7A

93 papers

RefSeq Summary

This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glyc...

Pfam Domains

Semaaa 138–307UCSCSema domain
PSIaa 327–377UCSCPlexin repeat
Ig_SEMA7Aaa 383–472UCSCSemaphorin-7A-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

semaphorin 7A

HGNC Previous Symbol

SEMAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003612.5
p.E569K
c.1705G>A
Surrounding Variants
1 paper
NM_003612.5
p.M568V
c.1702A>G
1 paper
NM_003612.5
p.S576*
c.1727C>G
2 papers
NM_003612.5
p.N559Y
c.1675A>T
1 paper
NM_003612.5
p.N582N
c.1746C>T
1 paper
NM_003612.5
p.K553N
c.1659G>T
1 paper
NM_003612.5
p.K553N
c.1659G>C
1 paper
NM_003612.5
p.D547Splc
c.1640-3C>A
1 paper
NM_003612.5
p.I597T
c.1790T>C
1 paper
NM_001146029.3
p.E587K
c.1759G>A
1 paper
NM_003612.5
p.E601delFs
c.1801delC
1 paper
NM_003612.5
p.L603L
c.1809C>A
1 paper
NM_001146029.3
p.A601T
c.1801G>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."