Varaico: Literature-Extracted Genetic Variants

Gene:SEMA7A
Variant:p.C126C

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.C126C
c.378C>T
Surrounding Variants
2 papers
NM_003612.5
p.R136W
c.406C>T
2 papers
NM_003612.5
p.S137N
c.410G>A
1 paper
NM_003612.5
p.A142V
c.425C>T
1 paper
NM_003612.5
p.N146Y
c.436A>T
14 papers
NM_003612.5
p.R148W
c.442C>T
1 paper
NM_003612.5
p.R124W
c.370C>T
1 paper
NM_003612.5
p.K123E
c.367A>G
1 paper
NM_003612.5
p.L163F
c.487C>T
1 paper
NM_003612.5
p.E165K
c.493G>A
1 paper
NM_003612.5
p.S119F
c.356C>T
1 paper
NM_003612.5
p.G118A
c.353G>C
3 papers
NM_003612.5
p.Y169Y
c.507C>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."