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.E478Q

c.1432G>C

Surrounding Variants

4 papers

NM_032427.4

p.I480M

c.1440C>G

1 paper

NM_032427.4

p.S471L

c.1412C>T

1 paper

NM_032427.4

p.Q488H

c.1464G>T

1 paper

NM_032427.4

p.S466S

c.1398T>C

3 papers

NM_032427.4

p.S462A

c.1384T>G

1 paper

NM_032427.4

p.S494T

c.1481G>C

2 papers

NM_032427.4

p.Q457_N460del0

c.1371_1379del9

2 papers

NM_032427.4

p.P498S

c.1492C>T

1 paper

NM_032427.4

p.H456_Q457ins0

c.1368_1370dupCCA

1 paper

NM_032427.4

p.Q454H

c.1362G>T

1 paper

NM_032427.4

p.Q454H

c.1362G>C

1 paper

NM_032427.4

p.S504N

c.1511G>A