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.R985C

c.2953C>T

Surrounding Variants

1 paper

NM_032427.4

p.E977K

c.2929G>A

1 paper

NM_032427.4

p.S968Y

c.2903C>A

1 paper

NM_032427.4

p.W966C

c.2898G>T

1 paper

NM_032427.4

p.G1005V

c.3014G>T

1 paper

NM_032427.4

p.P964Q

c.2891C>A

1 paper

NM_032427.4

p.F1009V

c.3025T>G

1 paper

NM_032427.4

p.S953*

c.2858C>G

1 paper

NM_032427.4

p.S953*

c.2858C>A

1 paper

NM_032427.4

p.Q1019R

c.3056A>G

1 paper

NM_032427.4

p.Q950R

c.2849A>G

1 paper

NM_032427.4

p.P1022Q

c.3065C>A

1 paper

NM_032427.4

p.H942R

c.2825A>G