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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAML1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 107 variants

6 papers

chr5:179774846 G>A

NM_014757.5

p.S1007N

c.3020G>A

MAML1_3_TAD2

Exome: 32.5% (AC=474418, hom=79791)Genome: 28.4% (AC=43277, hom=6502)9 overlapping SVs

5 papers

chr5:179766667 G>A

NM_014757.5

p.E553K

c.1657G>A

MAML1_3_TAD2

Exome: 0.2% (AC=3061, hom=6)Genome: 0.2% (AC=254, hom=0)10 overlapping SVs

3 papers

chr5:179768902 C>T

NM_014757.5

p.T595I

c.1784C>T

MAML1_3_TAD2

Exome: 0.3% (AC=4352, hom=11)Genome: 0.3% (AC=405, hom=0)9 overlapping SVs

3 papers

chr5:179774225 A>C

NM_014757.5

p.N800T

c.2399A>C

MAML1_3_TAD2

Exome: 0.3% (AC=4867, hom=28)Genome: 0.3% (AC=403, hom=1)9 overlapping SVs

2 papers

chr5:179765417 G>A

NM_014757.5

p.G136E

c.407G>A

Exome: 0.0% (AC=265, hom=5)Genome: 0.0% (AC=55, hom=0)9 overlapping SVs

2 papers

chr5:179765579 G>A

NM_014757.5

p.R190H

c.569G>A

Exome: 0.2% (AC=3519, hom=11)Genome: 0.2% (AC=336, hom=0)10 overlapping SVs

2 papers

chr5:179766359 C>T

NM_014757.5

p.A450V

c.1349C>T

MAML1_3_TAD2

exact variant not in gnomAD9 overlapping SVs

2 papers

chr5:179769017 A>G

NM_014757.5

p.Q633Q

c.1899A>G

MAML1_3_TAD2

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

2 papers

chr5:179773919 T>G

NM_014757.5

p.M698R

c.2093T>G

MAML1_3_TAD2

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=11, hom=0)9 overlapping SVs

2 papers

chr5:179774297 C>T

NM_014757.5

p.P824L

c.2471C>T

MAML1_3_TAD2

Exome: 1.0% (AC=14442, hom=83)Genome: 0.7% (AC=1108, hom=7)9 overlapping SVs

2 papers

chr5:179774339 C>T

NM_014757.5

p.S838F

c.2513C>T

MAML1_3_TAD2

exact variant not in gnomAD9 overlapping SVs

1 paper

chr5:179733237 AG>A

NM_014757.5

p.E42delFs

c.126delG

MamL-1

exact variant not in gnomAD9 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."