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

4 papers

NM_032427.4

p.G26A

c.77G>C

Surrounding Variants

1 paper

NM_032427.4

p.G25R

c.73G>C

1 paper

NM_032427.4

p.G25R

c.73G>A

1 paper

NM_032427.4

p.L22R

c.65T>G

1 paper

NM_032427.4

p.A17fs

c.49_50fs

1 paper

NM_032427.4

p.A17G

c.50C>G

1 paper

NM_032427.4

p.A17delFs

c.49delC

1 paper

NM_032427.4

p.G15R

c.43G>C

1 paper

NM_032427.4

p.G15R

c.43G>A

1 paper

NM_032427.4

p.G13R

c.37G>C

1 paper

NM_032427.4

p.G13R

c.37G>A

1 paper

NM_032427.4

p.G12R

c.34G>C

1 paper

NM_032427.4

p.G12R

c.34G>A