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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEMA4A

SEMA4A

142 papers

RefSeq Summary

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and i...

Pfam Domains

Semaaa 304–476UCSCSema domain

PSIaa 496–548UCSCPlexin repeat

Ig_SEMA7Aaa 562–654UCSCSemaphorin-7A-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

semaphorin 4A

HGNC Previous Symbol

SEMAB

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 205 variants

14 papers

chr1:156176849 G>A

NM_022367.4

p.R713Q

c.2138G>A

Exome: 4.1% (AC=59460, hom=1446)Genome: 3.3% (AC=4956, hom=132)227 overlapping SVs

10 papers

chr1:156176755 C>T

NM_022367.4

p.P682S

c.2044C>T

Exome: 1.7% (AC=24333, hom=266)Genome: 1.0% (AC=1583, hom=17)227 overlapping SVs

9 papers

chr1:156156506 G>A

NM_022367.4

p.V78M

c.232G>A

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=5, hom=0)226 overlapping SVs

8 papers

chr1:156162993 G>C

NM_022367.4

p.D345H

c.1033G>C

Sema

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)227 overlapping SVs

8 papers

chr1:156163009 T>G

NM_022367.4

p.F350C

c.1049T>G

Sema

exact variant not in gnomAD227 overlapping SVs

8 papers

chr1:156175102 G>C

NM_022367.4

p.G484A

c.1451G>C

Exome: 0.1% (AC=1270, hom=0)Genome: 0.1% (AC=96, hom=1)226 overlapping SVs

5 papers

chr1:156161512 C>T

NM_022367.4

p.S326F

c.977C>T

Sema

Exome: 0.0% (AC=2, hom=0)Genome: n/a227 overlapping SVs

4 papers

chr1:156158071 T>C

NM_022367.4

p.I101T

c.302T>C

Exome: 0.0% (AC=251, hom=0)Genome: 0.0% (AC=25, hom=0)226 overlapping SVs

3 papers

chr1:156176427 C>T

NM_022367.4

p.P572P

c.1716C>T

Ig_SEMA7A

Exome: 56.9% (AC=831127, hom=240626)Genome: 51.8% (AC=78757, hom=21192)226 overlapping SVs

3 papers

chr1:156176878 C>T

NM_022367.4

p.R723C

c.2167C>T

Exome: 0.3% (AC=4061, hom=126)Genome: 0.2% (AC=229, hom=5)227 overlapping SVs

2 papers

chr1:156156515 C>T

NM_022367.4

p.R81*

c.241C>T

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=3, hom=0)226 overlapping SVs

2 papers

chr1:156161448 C>T

NM_022367.4

p.R305C

c.913C>T

Sema

Exome: 0.0% (AC=14, hom=0)Genome: n/a227 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."