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

2 papers

NM_022552.5

p.Y584H

c.1750T>C

Surrounding Variants

1 paper

NM_022552.5

p.C583_Y584delins

c.1747_1750delinsGGCC

2 papers

NM_022552.5

p.Y584fs

c.1750_1751fs

2 papers

NM_022552.5

p.C583W

c.1749C>G

6 papers

NM_022552.5

p.C583*

c.1749C>A

2 papers

NM_022552.5

p.Y584C

c.1751A>G

1 paper

NM_022552.5

p.Y584insFs

c.1750_1751ins4

5 papers

NM_022552.5

p.C583S

c.1748G>C

4 papers

NM_022552.5

p.C583Y

c.1748G>A

4 papers

NM_022552.5

p.Y584*

c.1752C>G

2 papers

NM_022552.5

p.Y584fs

c.1750_1751fs

4 papers

NM_022552.5

p.Y584*

c.1752C>A

3 papers

NM_022552.5

p.C583R

c.1747T>C