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.P572L

c.1715C>T

Surrounding Variants

3 papers

NM_032427.4

p.A567V

c.1700C>T

1 paper

NM_032427.4

p.T556A

c.1666A>G

1 paper

NM_032427.4

p.Q589fs

c.1765_1766fs

1 paper

NM_032427.4

p.R552C

c.1654C>T

1 paper

NM_032427.4

p.E550D

c.1650G>T

1 paper

NM_032427.4

p.E550D

c.1650G>C

1 paper

NM_032427.4

p.Q596Q

c.1788G>A

1 paper

NM_032427.4

p.H546P

c.1637A>C

1 paper

NM_032427.4

p.P545L

c.1634C>T

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.Q604delFs

c.1812delC