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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAG11B

SPAG11B

42 papers

RefSeq Summary

This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm ma...

Pfam Domains

Sperm_Ag_HE2aa 5–74UCSCSperm antigen HE2

Gene Aliases

HGNC Name

sperm associated antigen 11B

HGNC Alias Symbols

HE2; EP2; EP2C; EP2D; EDDM2B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 42 variants

3 papers

chr8:7450864 T>C

NM_058201.4

p.H84R

c.251A>G

Sperm_Ag_HE2

Exome: 61.8% (AC=803591, hom=208805)Genome: 57.3% (AC=77967, hom=18411)16 overlapping SVs

2 papers

chr8:7463501 C>A

NM_058201.4

p.M1I

c.3G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 overlapping SVs

2 papers

chr8:7463501 C>G

NM_058201.4

p.M1I

c.3G>C

exact variant not in gnomAD16 overlapping SVs

2 papers

chr8:7463501 C>T

NM_058201.4

p.M1I

c.3G>A

exact variant not in gnomAD16 overlapping SVs

2 papers

chr8:7462743 G>A

NM_058201.4

p.R60W

c.178C>T

Sperm_Ag_HE2

Exome: 16.2% (AC=218477, hom=22)Genome: 15.5% (AC=22265, hom=7)16 overlapping SVs

1 paper

chr8:7463480 G>T

NM_058201.4

p.S8S

c.24C>A

Sperm_Ag_HE2

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:7463459 C>G

NM_058201.4

p.V15V

c.45G>C

Sperm_Ag_HE2

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:7463442 C>T

NM_058201.4

p.G21Splc

c.61+1G>A

Sperm_Ag_HE2

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:7462853 G>T

NM_058201.4

p.S23Y

c.68C>A

Sperm_Ag_HE2

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:7462852 A>T

NM_058201.4

p.S23S

c.69T>A

Sperm_Ag_HE2

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr8:7462831 G>A

NM_058201.4

p.H30H

c.90C>T

Sperm_Ag_HE2

Exome: 0.0% (AC=6, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr8:7462829 G>C

NM_058201.4

p.S31*

c.92C>G

Sperm_Ag_HE2

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

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