Varaico: Literature-Extracted Genetic Variants

Gene:AMMECR1
Variant:p.G82del1

AMMECR1

38 papers

RefSeq Summary

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME...

Pfam Domains

AMMECR1aa 131–302UCSCAMMECR1

Gene Aliases

HGNC Name

AMMECR nuclear protein 1

HGNC Previous Name

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015365.3
p.G82del1
c.244_245delCCC
Surrounding Variants
1 paper
NM_015365.3
p.I83V
c.247A>G
1 paper
NM_015365.3
p.G80_G81del1
c.240_242delCCG
1 paper
NM_015365.3
p.G77C
c.229G>T
1 paper
NM_015365.3
p.G92R
c.274G>C
1 paper
NM_015365.3
p.G92R
c.274G>A
1 paper
NM_015365.3
p.P73R
c.218C>G
1 paper
NM_015365.3
p.V93G
c.278T>G
1 paper
NM_015365.3
p.P72L
c.215C>T
2 papers
NM_015365.3
p.P72A
c.214C>G
1 paper
NM_015365.3
p.A103T
c.307G>A
1 paper
NM_015365.3
p.S110*
c.329C>G
1 paper
NM_015365.3
p.S110*
c.329C>A
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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."