Varaico: Literature-Extracted Genetic Variants

Gene:AMMECR1
Variant:p.R152fs

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.R152fs
c.454_455fs
Surrounding Variants
1 paper
NM_015365.3
p.R152delFs
c.454delG
1 paper
NM_015365.3
p.R149W
c.445C>T
1 paper
NM_015365.3
p.T154_N155del2
c.460_464del6
1 paper
NM_015365.3
p.Y143*
c.429T>G
2 papers
NM_015365.3
p.Y143*
c.429T>A
1 paper
NM_015365.3
p.S115L
c.344C>T
1 paper
NM_015365.3
p.S110*
c.329C>G
1 paper
NM_015365.3
p.S110*
c.329C>A
1 paper
NM_015365.3
p.A103T
c.307G>A
1 paper
NM_015365.3
p.V93G
c.278T>G
1 paper
NM_015365.3
p.G92R
c.274G>C
1 paper
NM_015365.3
p.G92R
c.274G>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."