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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPANXB1

SPANXB1

8 papers

RefSeq Summary

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary fo...

Pfam Domains

SPAN-Xaa 1–100UCSCSperm protein associated with nucleus, mapped to X chromosome

Gene Aliases

HGNC Name

SPANX family member B1

HGNC Previous Symbols

SPANXB2; SPANXF1; SPANXF2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

4 papers

chrX:141002745 TCCAACGAGG>T

NM_032461.4

p.S18_A21del0

c.53_61del9

SPAN-X

Exome: 0.2% (AC=1696, hom=0)Genome: 0.2% (AC=274, hom=0)34 overlapping SVs

3 papers

chrX:141003596 G>C

NM_032461.4

p.D86H

c.256G>C

SPAN-X

Exome: 0.6% (AC=6708, hom=25)Genome: 1.0% (AC=1054, hom=2)34 overlapping SVs

2 papers

chrX:141003496 GTCCTCGACCATACTAGTGGTTCGCTAC>G

NM_032461.4

p.S53_Y61del9

c.157_182del27

SPAN-X

exact variant not in gnomAD34 overlapping SVs

1 paper

chrX:141003560 C>G

NM_032461.4

p.L74V

c.220C>G

SPAN-X

Exome: 57.3% (AC=544132, hom=90240)Genome: 62.6% (AC=64307, hom=13328)35 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."