Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEMA3C

Variant:p.R453W

SEMA3C

84 papers

RefSeq Summary

This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-l...

Pfam Domains

Semaaa 305–493UCSCSema domain

I-setaa 579–661UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

semaphorin 3C

HGNC Previous Symbol

SEMAE

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:80765241 G>A

NM_006379.5

p.R453W

c.1357C>T

Sema

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=5, hom=0)89 overlapping SVs

Surrounding Variants

1 paper

chr7:80765237 C>A

NM_006379.5

p.G454V

c.1361G>T

Sema

exact variant not in gnomAD89 overlapping SVs

2 papers

chr7:80758450 C>T

NM_006379.5

p.Q508Q

c.1524G>A

Exome: 22.5% (AC=328230, hom=42529)Genome: 33.8% (AC=51346, hom=11120)89 overlapping SVs

1 paper

chr7:80758394 G>A

NM_006379.5

p.A527V

c.1580C>T

Exome: 0.0% (AC=9, hom=0)Genome: n/a89 overlapping SVs

1 paper

chr7:80758391 C>T

NM_006379.5

p.R528Q

c.1583G>A

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=4, hom=0)89 overlapping SVs

1 paper

chr7:80758389 C>T

NM_006379.5

p.D529N

c.1585G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a89 overlapping SVs

1 paper

chr7:80758377 C>T

NM_006379.5

p.A533T

c.1597G>A

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=5, hom=0)89 overlapping SVs

1 paper

chr7:80758347 A>G

NM_006379.5

p.Y543H

c.1627T>C

Exome: 0.0% (AC=2, hom=0)Genome: n/a89 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."