Varaico: Literature-Extracted Genetic Variants

Gene:EDDM3A
Variant:p.N135D

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006683.5
p.N135D
c.403A>G
Surrounding Variants
1 paper
NM_006683.5
p.V133I
c.397G>A
1 paper
NM_006683.5
p.Y114D
c.340T>G
1 paper
NM_006683.5
p.Y110*
c.330C>A
1 paper
NM_006683.5
p.Y110*
c.330C>G
2 papers
NM_006683.5
p.R88Q
c.263G>A
1 paper
NM_006683.5
p.R43Q
c.128G>A
2 papers
NM_006683.5
p.R43*
c.127C>T
1 paper
NM_006683.5
p.L39I
c.115T>A
1 paper
NM_006683.5
p.M1insFs
c.2dupT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."