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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEPTIN10

Variant:p.S4A

SEPTIN10

38 papers

RefSeq Summary

This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseud...

Pfam Domains

Septinaa 63–335UCSCSeptin

Gene Aliases

HGNC Name

septin 10

HGNC Previous Symbol

SEPT10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:109613818 A>C

NM_144710.5

p.S4A

c.10T>G

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=2, hom=0)154 overlapping SVs

Surrounding Variants

1 paper

chr2:109613820 G>GA

NM_144710.5

p.S3insFs

c.7dupT

exact variant not in gnomAD154 overlapping SVs

1 paper

chr2:109613824 C>T

NM_144710.5

p.A2T

c.4G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a154 overlapping SVs

1 paper

chr2:109613810 C>G

NM_144710.5

p.V6V

c.18G>C

exact variant not in gnomAD154 overlapping SVs

1 paper

chr2:109613800 G>A

NM_144710.5

p.L10L

c.28C>T

Exome: 0.2% (AC=2307, hom=6)Genome: 0.2% (AC=229, hom=1)154 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."