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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPANXD

SPANXD

23 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 1–94UCSCSperm protein associated with nucleus, mapped to X chromosome

Gene Aliases

HGNC Name

SPANX family member D

HGNC Previous Symbol

SPANXE

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 19 variants

4 papers

chrX:141697539 T>C

NM_032417.4

p.K74E

c.220A>G

SPAN-X

Exome: 5.0% (AC=51022, hom=1536)Genome: 8.5% (AC=8312, hom=191)37 overlapping SVs

3 papers

chrX:141697557 C>G

NM_032417.4

p.V68L

c.202G>C

SPAN-X

Exome: 1.5% (AC=15865, hom=39)Genome: 4.8% (AC=4837, hom=6)37 overlapping SVs

2 papers

chrX:141697584 A>C

NM_032417.4

p.F59V

c.175T>G

SPAN-X

Exome: 0.0% (AC=359, hom=4)Genome: 0.1% (AC=71, hom=0)37 overlapping SVs

2 papers

chrX:141697582 A>C

NM_032417.4

p.F59L

c.177T>G

SPAN-X

Exome: 0.0% (AC=363, hom=4)Genome: 0.1% (AC=78, hom=0)37 overlapping SVs

1 paper

chrX:141698381 CG>C

NM_032417.4

p.G8delFs

c.24delG

SPAN-X

exact variant not in gnomAD37 overlapping SVs

1 paper

chrX:141698366 C>T

NM_032417.4

p.V14I

c.40G>A

SPAN-X

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=11, hom=0)37 overlapping SVs

1 paper

chrX:141698351 T>A

NM_032417.4

p.N19Y

c.55A>T

SPAN-X

exact variant not in gnomAD37 overlapping SVs

1 paper

chrX:141698344 G>A

NM_032417.4

p.A21V

c.62C>T

SPAN-X

Exome: 23.7% (AC=134175, hom=7)Genome: 16.3% (AC=8617, hom=0)37 overlapping SVs

1 paper

chrX:141697671 T>C

NM_032417.4

p.S30G

c.88A>G

SPAN-X

exact variant not in gnomAD37 overlapping SVs

1 paper

chrX:141697655 G>A

NM_032417.4

p.P35L

c.104C>T

SPAN-X

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=2, hom=0)37 overlapping SVs

1 paper

chrX:141697635 G>T

NM_032417.4

p.L42I

c.124C>A

SPAN-X

Exome: 0.0% (AC=434, hom=18)Genome: 0.1% (AC=136, hom=2)37 overlapping SVs

1 paper

chrX:141697616 G>T

NM_032417.4

p.S48*

c.143C>A

SPAN-X

Exome: 0.0% (AC=202, hom=6)Genome: 0.0% (AC=21, hom=1)37 overlapping SVs

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