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

2 papers

NM_032427.4

p.D202_I203del1

c.605_607delTAT

Surrounding Variants

6 papers

NM_032427.4

p.D202_I203delFs

c.604_607del4

1 paper

NM_032427.4

p.L201_I203delFs

c.603_607del5

1 paper

NM_032427.4

p.L201_D202delFs

c.603_606del4

1 paper

NM_032427.4

p.L201_D202delFs

c.603_604delCA

1 paper

NM_032427.4

p.D202H

c.604G>C

1 paper

NM_032427.4

p.L201_R205delFs

c.603_613del11

1 paper

NM_032427.4

p.L201I

c.601C>A

1 paper

NM_032427.4

p.F200L

c.600T>G

1 paper

NM_032427.4

p.F200L

c.600T>A

1 paper

NM_032427.4

p.F200L

c.598T>C

1 paper

NM_032427.4

p.N198_S199del1

c.594_596delGAG

2 papers

NM_032427.4

p.R207H

c.620G>A