Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.M364T

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
1 paper
NM_014757.5
p.M364T
c.1091T>C
Surrounding Variants
1 paper
NM_014757.5
p.S360C
c.1078A>T
1 paper
NM_014757.5
p.P359P
c.1077C>A
1 paper
NM_014757.5
p.P359L
c.1076C>T
1 paper
NM_014757.5
p.R355Q
c.1064G>A
1 paper
NM_014757.5
p.R355W
c.1063C>T
1 paper
NM_014757.5
p.P354L
c.1061C>T
1 paper
NM_014757.5
p.F348L
c.1044C>A
1 paper
NM_014757.5
p.F348L
c.1044C>G
1 paper
NM_014757.5
p.F348L
c.1042T>C
1 paper
NM_014757.5
p.G386V
c.1157G>T
1 paper
NM_014757.5
p.L327L
c.979C>T
1 paper
NM_014757.5
p.P415L
c.1244C>T
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