Varaico: Literature-Extracted Genetic Variants

DNMT3A

2,446 papers

RefSeq Summary

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required...

Pfam Domains

DNM3A_Naa 1–61UCSCDNA (cytosine-5-)-methyltransferase, N-terminal

DNM3A_Naa 4–284UCSCDNA (cytosine-5-)-methyltransferase, N-terminal

PWWPaa 293–377UCSCPWWP domain

ADD_DNMT3aa 475–530UCSCDNMT3, cysteine rich ADD domain, GATA1-like zinc finger

Gene Aliases

HGNC Name

DNA methyltransferase 3 alpha

HGNC Previous Name

DNA (cytosine-5-)-methyltransferase 3 alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

18 papers

NM_022552.5

p.L547H

c.1640T>A

Surrounding Variants

7 papers

NM_022552.5

p.L547R

c.1640T>G

4 papers

NM_022552.5

p.L547P

c.1640T>C

1 paper

NM_022552.5

p.L547delFs

c.1639delG

3 papers

NM_022552.5

p.G543_L547delFs

c.1629_1639del11

11 papers

NM_022552.5

p.L547F

c.1639C>T

1 paper

NM_022552.5

p.L547fs

c.1639_1640fs

2 papers

NM_022552.5

p.L547I

c.1639C>A

1 paper

NM_022552.5

p.L547fs

c.1639_1640fs

1 paper

NM_022552.5

p.V546V

c.1638G>T

3 papers

NM_022552.5

p.M548fs

c.1642_1643fs

1 paper

NM_022552.5

p.M548insFs

c.1643_1644insCG

1 paper

NM_022552.5

p.M548R

c.1643T>G