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

4 papers

NM_022552.5

p.Y584*

c.1752C>A

Surrounding Variants

4 papers

NM_022552.5

p.Y584*

c.1752C>G

2 papers

NM_022552.5

p.Y584fs

c.1750_1751fs

3 papers

NM_022552.5

p.M585fs

c.1753_1754fs

1 paper

NM_022552.5

p.M585L

c.1753A>T

2 papers

NM_022552.5

p.Y584C

c.1751A>G

1 paper

NM_022552.5

p.M585L

c.1753A>C

1 paper

NM_022552.5

p.Y584insFs

c.1750_1751ins4

1 paper

NM_022552.5

p.C583_Y584del1

c.1749_1751delTAG

2 papers

NM_022552.5

p.Y584H

c.1750T>C

1 paper

NM_022552.5

p.C583_Y584delins

c.1747_1750delinsGGCC

1 paper

NM_022552.5

p.Y584_M585delFs

c.1752_1753delTG

2 papers

NM_022552.5

p.Y584fs

c.1750_1751fs