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

1–12 of 215 variants

16 papers

NM_032427.4

p.Q604_Q607del0

c.1812_1820del9

8 papers

NM_032427.4

p.Q237R

c.710A>G

6 papers

NM_032427.4

p.D202_I203delFs

c.604_607del4

6 papers

NM_032427.4

p.Q604_Q607del4

c.1810_1820del12

4 papers

NM_032427.4

p.G26A

c.77G>C

4 papers

NM_032427.4

p.G174D

c.521G>A

4 papers

NM_032427.4

p.I480M

c.1440C>G

4 papers

NM_032427.4

p.V836I

c.2506G>A

3 papers

NM_032427.4

p.R448Q

c.1343G>A

3 papers

NM_032427.4

p.S462A

c.1384T>G

3 papers

NM_032427.4

p.A567V

c.1700C>T

3 papers

NM_032427.4

p.Q603_Q604del2

c.1807_1811del6