Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.I235V

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.I235V
c.703A>G
Surrounding Variants
1 paper
NM_014757.5
p.M241L
c.721A>C
1 paper
NM_014757.5
p.M241V
c.721A>G
1 paper
NM_014757.5
p.M241L
c.721A>T
1 paper
NM_014757.5
p.I255L
c.763A>C
1 paper
NM_014757.5
p.H197L
c.590A>T
2 papers
NM_014757.5
p.R190H
c.569G>A
1 paper
NM_014757.5
p.K189R
c.566A>G
1 paper
NM_014757.5
p.K188R
c.563A>G
1 paper
NM_014757.5
p.S175F
c.524C>T
1 paper
NM_014757.5
p.D295N
c.883G>A
1 paper
NM_014757.5
p.L173M
c.517C>A
1 paper
NM_014757.5
p.A172T
c.514G>A
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