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.R241Q

c.722G>A

Surrounding Variants

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

1 paper

NM_032427.4

p.Q227*

c.679C>T

1 paper

NM_032427.4

p.G209R

c.625G>C

1 paper

NM_032427.4

p.G209R

c.625G>A

2 papers

NM_032427.4

p.R207H

c.620G>A

1 paper

NM_032427.4

p.L201_R205delFs

c.603_613del11

1 paper

NM_032427.4

p.L201_I203delFs

c.603_607del5

2 papers

NM_032427.4

p.D202_I203del1

c.605_607delTAT

6 papers

NM_032427.4

p.D202_I203delFs

c.604_607del4

1 paper

NM_032427.4

p.L201_D202delFs

c.603_606del4