Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.M567T

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.M567T
c.1700T>C
Surrounding Variants
1 paper
NM_014757.5
p.L559V
c.1675C>G
1 paper
NM_014757.5
p.G576V
c.1727G>T
5 papers
NM_014757.5
p.E553K
c.1657G>A
1 paper
NM_014757.5
p.I550_S551insFs
c.1650_1651insA
1 paper
NM_014757.5
p.P544L
c.1631C>T
1 paper
NM_014757.5
p.V509G
c.1526T>G
1 paper
NM_014757.5
p.N488I
c.1463A>T
1 paper
NM_014757.5
p.S474F
c.1421C>T
1 paper
NM_014757.5
p.P468S
c.1402C>T
1 paper
NM_014757.5
p.L465P
c.1394T>C
1 paper
NM_014757.5
p.D458D
c.1374C>T
2 papers
NM_014757.5
p.A450V
c.1349C>T
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