Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.N800T

MAML1

119 papers

RefSeq Summary

This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human ho...

Pfam Domains

MamL-1aa 14–71UCSCMamL-1 domain
MAML1_3_TAD2aa 303–1016UCSCMastermind-like 1/3, transactivation domain 2

Gene Aliases

HGNC Name

mastermind like transcriptional coactivator 1

HGNC Alias Symbols

KIAA0200; Mam-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014757.5
p.N800T
c.2399A>C
Surrounding Variants
1 paper
NM_014757.5
p.A796V
c.2387C>T
1 paper
NM_014757.5
p.N790K
c.2370C>A
1 paper
NM_014757.5
p.N790K
c.2370C>G
1 paper
NM_014757.5
p.H780Y
c.2338C>T
2 papers
NM_014757.5
p.P824L
c.2471C>T
2 papers
NM_014757.5
p.S838F
c.2513C>T
1 paper
NM_014757.5
p.M844V
c.2530A>G
1 paper
NM_014757.5
p.P845L
c.2534C>T
1 paper
NM_014757.5
p.Q753*
c.2257C>T
1 paper
NM_014757.5
p.V857M
c.2569G>A
1 paper
NM_014757.5
p.G741fs
c.2221_2222fs
1 paper
NM_014757.5
p.G741delFs
c.2222delG
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."