Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.A68T

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.A68T
c.202G>A
Surrounding Variants
1 paper
NM_014757.5
p.K67E
c.199A>G
1 paper
NM_014757.5
p.K69R
c.206A>G
1 paper
NM_014757.5
p.Q65*
c.193C>T
1 paper
NM_014757.5
p.I64V
c.190A>G
1 paper
NM_014757.5
p.K73R
c.218A>G
1 paper
NM_014757.5
p.Q61K
c.181C>A
1 paper
NM_014757.5
p.L59V
c.175C>G
1 paper
NM_014757.5
p.A84S
c.250G>T
1 paper
NM_014757.5
p.P88S
c.262C>T
1 paper
NM_014757.5
p.P88Q
c.263C>A
1 paper
NM_014757.5
p.P90R
c.269C>G
1 paper
NM_014757.5
p.E42delFs
c.126delG
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