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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPANXC

SPANXC

16 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 C

HGNC Alias Symbols

CTp11; CT11.3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 18 variants

3 papers

chrX:141242391 C>T

NM_022661.4

p.E23K

c.67G>A

SPAN-X

Exome: 3.2% (AC=27811, hom=881)Genome: 4.4% (AC=2560, hom=101)34 overlapping SVs

1 paper

chrX:141242441 C>T

NM_022661.4

p.S6N

c.17G>A

SPAN-X

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chrX:141242434 G>GN

NM_022661.4

p.G8fs

c.22_23fs

SPAN-X

exact variant not in gnomAD34 overlapping SVs

1 paper

chrX:141242433 CG>C

NM_022661.4

p.G8delFs

c.24delG

SPAN-X

exact variant not in gnomAD34 overlapping SVs

1 paper

chrX:141242387 A>G

NM_022661.4

p.M24T

c.71T>C

SPAN-X

Exome: 59.9% (AC=340694, hom=103321)Genome: 34.7% (AC=13815, hom=3318)34 overlapping SVs

1 paper

chrX:141241708 G>A

NM_022661.4

p.P35S

c.103C>T

SPAN-X

exact variant not in gnomAD33 overlapping SVs

1 paper

chrX:141241687 G>T

NM_022661.4

p.L42I

c.124C>A

SPAN-X

Exome: 2.1% (AC=9408, hom=1778)Genome: 0.3% (AC=141, hom=3)33 overlapping SVs

1 paper

chrX:141241668 G>T

NM_022661.4

p.S48*

c.143C>A

SPAN-X

Exome: 0.0% (AC=0, hom=0)Genome: n/a33 overlapping SVs

1 paper

chrX:141241648 A>T

NM_022661.4

p.Y55N

c.163T>A

SPAN-X

exact variant not in gnomAD33 overlapping SVs

1 paper

chrX:141241644 C>T

NM_022661.4

p.R56K

c.167G>A

SPAN-X

exact variant not in gnomAD33 overlapping SVs

1 paper

chrX:141241598 G>A

NM_022661.4

p.H71H

c.213C>T

SPAN-X

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)33 overlapping SVs

1 paper

chrX:141241594 G>A

NM_022661.4

p.R73*

c.217C>T

SPAN-X

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)33 overlapping SVs

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