Varaico: Literature-Extracted Genetic Variants

MAML2

222 papers

RefSeq Summary

The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin r...

Pfam Domains

MamL-1aa 31–88UCSCMamL-1 domain

MAML2_TADaa 609–681UCSCMastermind-like protein 2, transcriptional activation domain

Gene Aliases

HGNC Name

mastermind like transcriptional coactivator 2

HGNC Alias Symbols

KIAA1819; MAM3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032427.4

p.S850T

c.2548T>A

Surrounding Variants

1 paper

NM_032427.4

p.S850C

c.2549C>G

2 papers

NM_032427.4

p.H853H

c.2559C>T

1 paper

NM_032427.4

p.M857V

c.2569A>G

1 paper

NM_032427.4

p.M857T

c.2570T>C

1 paper

NM_032427.4

p.V864L

c.2590G>C

4 papers

NM_032427.4

p.V836I

c.2506G>A

1 paper

NM_032427.4

p.M869I

c.2607G>A

3 papers

NM_032427.4

p.P896T

c.2686C>A

1 paper

NM_032427.4

p.P909S

c.2725C>T

1 paper

NM_032427.4

p.A923G

c.2768C>G

1 paper

NM_032427.4

p.T941S

c.2821A>T

1 paper

NM_032427.4

p.T941S

c.2822C>G