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.R422Q

c.1265G>A

Surrounding Variants

1 paper

NM_032427.4

p.G419E

c.1256G>A

1 paper

NM_032427.4

p.G419R

c.1255G>C

1 paper

NM_032427.4

p.G419R

c.1255G>A

1 paper

NM_032427.4

p.S431Y

c.1292C>A

1 paper

NM_032427.4

p.Q411Q

c.1233G>A

1 paper

NM_032427.4

p.Q435*

c.1303C>T

1 paper

NM_032427.4

p.A433_L436del0

c.1299_1307del9

1 paper

NM_032427.4

p.A433_L436del4

c.1297_1307del12

1 paper

NM_032427.4

p.P405S

c.1213C>T

1 paper

NM_032427.4

p.P403delFs

c.1209delT

1 paper

NM_032427.4

p.S402C

c.1205C>G

2 papers

NM_032427.4

p.R443C

c.1327C>T