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

9 papers

NM_022552.5

p.E774*

c.2320G>T

Surrounding Variants

11 papers

NM_022552.5

p.E774K

c.2320G>A

1 paper

NM_022552.5

p.L773del1

c.2317_2318delGAG

1 paper

NM_022552.5

p.F772_L773delFs

c.2315_2319del5

1 paper

NM_022552.5

p.E774fs

c.2320_2321fs

2 papers

NM_022552.5

p.L773fs

c.2317_2318fs

1 paper

NM_022552.5

p.F772_L773del1

c.2316_2318delAGA

4 papers

NM_022552.5

p.E774V

c.2321A>T

6 papers

NM_022552.5

p.E774G

c.2321A>G

2 papers

NM_022552.5

p.E774A

c.2321A>C

1 paper

NM_022552.5

p.E774delFs

c.2320delC

5 papers

NM_022552.5

p.L773R

c.2318T>G

6 papers

NM_022552.5

p.L773P

c.2318T>C