Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.T595I

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.T595I
c.1784C>T
Surrounding Variants
1 paper
NM_014757.5
p.Q596L
c.1787A>T
1 paper
NM_014757.5
p.V593F
c.1777G>T
1 paper
NM_014757.5
p.S601F
c.1802C>T
1 paper
NM_014757.5
p.S582F
c.1745C>T
1 paper
NM_014757.5
p.Q617L
c.1850A>T
1 paper
NM_014757.5
p.Q631Q
c.1893G>A
2 papers
NM_014757.5
p.Q633Q
c.1899A>G
1 paper
NM_014757.5
p.G576V
c.1727G>T
1 paper
NM_014757.5
p.M567T
c.1700T>C
1 paper
NM_014757.5
p.L559V
c.1675C>G
5 papers
NM_014757.5
p.E553K
c.1657G>A
1 paper
NM_014757.5
p.I550_S551insFs
c.1650_1651insA
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