Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.T140S

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.T140S
c.418A>T
Surrounding Variants
1 paper
NM_014757.5
p.T140S
c.419C>G
1 paper
NM_014757.5
p.R141C
c.421C>T
1 paper
NM_014757.5
p.K138N
c.414G>C
1 paper
NM_014757.5
p.K138N
c.414G>T
2 papers
NM_014757.5
p.G136E
c.407G>A
1 paper
NM_014757.5
p.F134F
c.402T>C
1 paper
NM_014757.5
p.G147R
c.439G>A
1 paper
NM_014757.5
p.P121L
c.362C>T
1 paper
NM_014757.5
p.P160R
c.479C>G
1 paper
NM_014757.5
p.A118T
c.352G>A
1 paper
NM_014757.5
p.T110A
c.328A>G
1 paper
NM_014757.5
p.A172T
c.514G>A
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