Varaico: Literature-Extracted Genetic Variants

Gene:SEMA7A
Variant:p.P385S

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.P385S
c.1153C>T
Surrounding Variants
1 paper
NM_003612.5
p.V387delFs
c.1161delC
2 papers
NM_003612.5
p.V391M
c.1171G>A
1 paper
NM_003612.5
p.G395E
c.1184G>A
1 paper
NM_003612.5
p.Q409*
c.1225C>T
2 papers
NM_003612.5
p.V413V
c.1239C>T
1 paper
NM_003612.5
p.R415C
c.1243C>T
1 paper
NM_003612.5
p.A418T
c.1252G>A
1 paper
NM_003612.5
p.P361S
c.1081C>T
2 papers
NM_003612.5
p.G353G
c.1059C>T
1 paper
NM_003612.5
p.S350S
c.1050A>T
1 paper
NM_003612.5
p.S350S
c.1050A>G
1 paper
NM_003612.5
p.T348T
c.1044C>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."