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.S1156F

c.3467C>T

Surrounding Variants

1 paper

NM_032427.4

p.G1153E

c.3458G>A

1 paper

NM_032427.4

p.D1140N

c.3418G>A

1 paper

NM_032427.4

p.K1134E

c.3400A>G

1 paper

NM_032427.4

p.N1115N

c.3345T>C

1 paper

NM_032427.4

p.L1111P

c.3332T>C

1 paper

NM_032427.4

p.S1085N

c.3254G>A

1 paper

NM_032427.4

p.Q1064K

c.3190C>A

1 paper

NM_032427.4

p.Q1057*

c.3169C>T

3 papers

NM_032427.4

p.N1052S

c.3155A>G

1 paper

NM_032427.4

p.L1049F

c.3145C>T

1 paper

NM_032427.4

p.N1048fs

c.3142_3143fs

1 paper

NM_032427.4

p.N1048insFs

c.3142_3143insG