Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.D441Y

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.D441Y
c.1321G>T
Surrounding Variants
1 paper
NM_014757.5
p.Y444C
c.1331A>G
1 paper
NM_014757.5
p.M446V
c.1336A>G
2 papers
NM_014757.5
p.A450V
c.1349C>T
1 paper
NM_014757.5
p.G425D
c.1274G>A
1 paper
NM_014757.5
p.P424R
c.1271C>G
1 paper
NM_014757.5
p.D458D
c.1374C>T
1 paper
NM_014757.5
p.L465P
c.1394T>C
1 paper
NM_014757.5
p.Q416L
c.1247A>T
1 paper
NM_014757.5
p.P415L
c.1244C>T
1 paper
NM_014757.5
p.P468S
c.1402C>T
1 paper
NM_014757.5
p.S474F
c.1421C>T
1 paper
NM_014757.5
p.N488I
c.1463A>T
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