Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.S1007N

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
6 papers
NM_014757.5
p.S1007N
c.3020G>A
Surrounding Variants
1 paper
NM_014757.5
p.G976G
c.2928G>A
1 paper
NM_014757.5
p.P971L
c.2912C>T
1 paper
NM_014757.5
p.L970L
c.2908C>T
1 paper
NM_014757.5
p.T958S
c.2873C>G
1 paper
NM_014757.5
p.T958S
c.2872A>T
1 paper
NM_014757.5
p.A953V
c.2858C>T
1 paper
NM_014757.5
p.S878G
c.2632A>G
1 paper
NM_014757.5
p.V857M
c.2569G>A
1 paper
NM_014757.5
p.P845L
c.2534C>T
1 paper
NM_014757.5
p.M844V
c.2530A>G
2 papers
NM_014757.5
p.S838F
c.2513C>T
2 papers
NM_014757.5
p.P824L
c.2471C>T
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