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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEMA7A

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 125 variants

14 papers

chr15:74417900 G>A

NM_003612.5

p.R148W

c.442C>T

Exome: 0.0% (AC=268, hom=0)Genome: 0.0% (AC=39, hom=0)16 overlapping SVs

5 papers

chr15:74411926 G>A

NM_003612.5

p.R461C

c.1381C>T

Sema

Exome: 0.0% (AC=162, hom=0)Genome: 0.0% (AC=15, hom=0)16 overlapping SVs

4 papers

chr15:74414933 C>T

NM_003612.5

p.V334I

c.1000G>A

Sema

Exome: 0.0% (AC=206, hom=0)Genome: 0.0% (AC=17, hom=0)16 overlapping SVs

3 papers

chr15:74418863 C>A

NM_003612.5

p.G90*

c.268G>T

exact variant not in gnomAD16 overlapping SVs

3 papers

chr15:74418297 A>T

NM_003612.5

p.S115T

c.343T>A

Exome: 0.3% (AC=4536, hom=195)Genome: 3.0% (AC=4522, hom=224)16 overlapping SVs

3 papers

chr15:74417964 G>A

NM_003612.5

p.C126C

c.378C>T

Exome: 1.8% (AC=25895, hom=452)Genome: 3.7% (AC=5706, hom=184)16 overlapping SVs

3 papers

chr15:74417634 G>A

NM_003612.5

p.Y169Y

c.507C>T

Exome: 12.8% (AC=187116, hom=13829)Genome: 18.9% (AC=28710, hom=3543)16 overlapping SVs

3 papers

chr15:74417377 G>A

NM_003612.5

p.R207W

c.619C>T

Exome: 0.0% (AC=86, hom=0)Genome: 0.0% (AC=6, hom=0)16 overlapping SVs

3 papers

chr15:74417376 C>T

NM_003612.5

p.R207Q

c.620G>A

Exome: 0.1% (AC=748, hom=1)Genome: 0.0% (AC=48, hom=0)16 overlapping SVs

3 papers

chr15:74411928 C>T

NM_003612.5

p.R460H

c.1379G>A

Sema

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

3 papers

chr15:74411588 T>C

NM_003612.5

p.Q515Q

c.1545A>G

PSI

Exome: 29.5% (AC=422985, hom=69657)Genome: 39.2% (AC=59562, hom=14129)16 overlapping SVs

3 papers

chr15:74410681 G>A

NM_003612.5

p.A648A

c.1944C>T

Exome: 6.4% (AC=92778, hom=5041)Genome: 13.5% (AC=20564, hom=2533)16 overlapping SVs

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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."