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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EDDM3A

EDDM3A

11 papers

RefSeq Summary

Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment o...

Pfam Domains

RnaseAaa 29–138UCSCPancreatic ribonuclease

Gene Aliases

HGNC Name

epididymal protein 3A

HGNC Previous Symbol

FAM12A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr14:20747707 C>T

NM_006683.5

p.R43*

c.127C>T

RnaseA

Exome: 0.0% (AC=275, hom=1)Genome: 0.2% (AC=278, hom=0)2 overlapping SVs

2 papers

chr14:20747843 G>A

NM_006683.5

p.R88Q

c.263G>A

RnaseA

Exome: 0.0% (AC=117, hom=6)Genome: 0.0% (AC=8, hom=0)2 overlapping SVs

1 paper

chr14:20747581 A>AT

NM_006683.5

p.M1insFs

c.2dupT

exact variant not in gnomAD2 overlapping SVs

1 paper

chr14:20747695 T>A

NM_006683.5

p.L39I

c.115T>A

RnaseA

exact variant not in gnomAD2 overlapping SVs

1 paper

chr14:20747708 G>A

NM_006683.5

p.R43Q

c.128G>A

RnaseA

Exome: 0.0% (AC=78, hom=0)Genome: 0.0% (AC=15, hom=0)2 overlapping SVs

1 paper

chr14:20747910 C>A

NM_006683.5

p.Y110*

c.330C>A

RnaseA

Exome: 0.0% (AC=12, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr14:20747910 C>G

NM_006683.5

p.Y110*

c.330C>G

RnaseA

exact variant not in gnomAD2 overlapping SVs

1 paper

chr14:20747920 T>G

NM_006683.5

p.Y114D

c.340T>G

RnaseA

exact variant not in gnomAD2 overlapping SVs

1 paper

chr14:20747977 G>A

NM_006683.5

p.V133I

c.397G>A

RnaseA

Exome: 0.4% (AC=6341, hom=19)Genome: 0.3% (AC=514, hom=1)2 overlapping SVs

1 paper

chr14:20747983 A>G

NM_006683.5

p.N135D

c.403A>G

RnaseA

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 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."