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.P290S

c.868C>T

Surrounding Variants

1 paper

NM_032427.4

p.G294R

c.880G>C

1 paper

NM_032427.4

p.G294R

c.880G>A

1 paper

NM_032427.4

p.D296Y

c.886G>T

1 paper

NM_032427.4

p.E305A

c.914A>C

1 paper

NM_032427.4

p.E308G

c.923A>G

1 paper

NM_032427.4

p.P319T

c.955C>A

1 paper

NM_032427.4

p.L324P

c.971T>C

1 paper

NM_032427.4

p.K335Fs

c.1003delinsGAFs

2 papers

NM_032427.4

p.R241Q

c.722G>A

1 paper

NM_032427.4

p.R241*

c.721C>T

1 paper

NM_032427.4

p.P239P

c.717C>T

8 papers

NM_032427.4

p.Q237R

c.710A>G