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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEMA3F

Variant:p.A16G

SEMA3F

82 papers

RefSeq Summary

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema d...

Pfam Domains

Semaaa 339–527UCSCSema domain

Ig_SEMA7Aaa 607–704UCSCSemaphorin-7A-like, immunoglobulin-like domain

Gene Aliases

HGNC Name

semaphorin 3F

HGNC Alias Symbols

SEMAK; Sema4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:50159669 C>G

NM_004186.5

p.A16G

c.47C>G

exact variant not in gnomAD55 overlapping SVs

Surrounding Variants

1 paper

chr3:50159663 C>T

NM_004186.5

p.T14I

c.41C>T

exact variant not in gnomAD55 overlapping SVs

1 paper

chr3:50159659 C>T

NM_004186.5

p.L13L

c.37C>T

Exome: 3.2% (AC=47463, hom=10228)Genome: 5.4% (AC=8212, hom=1579)55 overlapping SVs

1 paper

chr3:50159657 T>C

NM_004186.5

p.L12P

c.35T>C

exact variant not in gnomAD55 overlapping SVs

1 paper

chr3:50159682 C>CATAT

NM_004186.5

p.F20_P21insFs

c.60_61ins4

exact variant not in gnomAD55 overlapping SVs

1 paper

chr3:50159682 C>CATATAT

NM_004186.5

p.F20_P21ins2

c.60_61ins6

exact variant not in gnomAD55 overlapping SVs

3 papers

chr3:50159708 C>T

NM_004186.5

p.T29M

c.86C>T

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=5, hom=0)55 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."