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

16 papers

NM_032427.4

p.Q604_Q607del0

c.1812_1820del9

Surrounding Variants

2 papers

NM_032427.4

p.Q603_Q604del1

c.1809_1811delTGC

3 papers

NM_032427.4

p.Q603_Q604del2

c.1807_1811del6

2 papers

NM_032427.4

p.Q603_Q606del4

c.1807_1817del12

2 papers

NM_032427.4

p.Q604_Q608delFs

c.1812_1822del11

1 paper

NM_032427.4

p.Q608fs

c.1822_1823fs

1 paper

NM_032427.4

p.Q607_Q608del1

c.1821_1823delTGT

2 papers

NM_032427.4

p.Q608delFs

c.1824delC

1 paper

NM_032427.4

p.Q604delFs

c.1812delC

1 paper

NM_032427.4

p.Q604fs

c.1810_1811fs

2 papers

NM_032427.4

p.Q604Q

c.1812G>A

1 paper

NM_032427.4

p.Q610Q

c.1830G>A

2 papers

NM_032427.4

p.Q605_Q607del3

c.1813_1820del9