Varaico: Literature-Extracted Genetic Variants

Gene:AMMECR1

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
1–12 of 41 variants
4 papers
NM_015365.3
p.G177D
c.530G>A
2 papers
NM_015365.3
p.P72A
c.214C>G
2 papers
NM_015365.3
p.Y143*
c.429T>A
2 papers
NM_015365.3
p.R168*
c.502C>T
1 paper
NM_015365.3
p.G26A
c.77G>C
1 paper
NM_015365.3
p.R40G
c.118C>G
1 paper
NM_015365.3
p.R52fs
c.154_155fs
1 paper
NM_015365.3
p.R52delFs
c.154_155delCG
1 paper
NM_015365.3
p.P72L
c.215C>T
1 paper
NM_015365.3
p.P73R
c.218C>G
1 paper
NM_015365.3
p.G77C
c.229G>T
1 paper
NM_015365.3
p.G80_G81del1
c.240_242delCCG
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."