Varaico: Literature-Extracted Genetic Variants

Gene:SEMA7A
Variant:p.Q515Q

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
3 papers
NM_003612.5
p.Q515Q
c.1545A>G
Surrounding Variants
1 paper
NM_003612.5
p.C503F
c.1508G>T
1 paper
NM_003612.5
p.G502V
c.1505G>T
1 paper
NM_003612.5
p.G497insFs
c.1491dupC
1 paper
NM_003612.5
p.G497D
c.1490G>A
1 paper
NM_003612.5
p.E484K
c.1450G>A
1 paper
NM_003612.5
p.Q482P
c.1445A>C
1 paper
NM_003612.5
p.P534delFs
c.1601delG
1 paper
NM_003612.5
p.E536fs
c.1606_1607fs
1 paper
NM_003612.5
p.R474L
c.1421G>T
1 paper
NM_003612.5
p.R474P
c.1421G>C
2 papers
NM_003612.5
p.R474Q
c.1421G>A
1 paper
NM_003612.5
p.R474W
c.1420C>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."