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

7 papers

NM_022552.5

p.W795S

c.2384G>C

Surrounding Variants

4 papers

NM_022552.5

p.W795L

c.2384G>T

19 papers

NM_022552.5

p.W795*

c.2384G>A

1 paper

NM_022552.5

p.W795delFs

c.2383delA

1 paper

NM_022552.5

p.F794_W795delFs

c.2382_2383delAG

1 paper

NM_022552.5

p.F794del1

c.2380_2381delGAA

1 paper

NM_022552.5

p.R790_W795delFs

c.2368_2383del16

1 paper

NM_022552.5

p.W795_G796ins3

c.2383_2387ins9

3 papers

NM_022552.5

p.W795G

c.2383T>G

8 papers

NM_022552.5

p.W795R

c.2383T>C

8 papers

NM_022552.5

p.W795R

c.2383T>A

1 paper

NM_022552.5

p.F794delFs

c.2382delG

1 paper

NM_022552.5

p.F794_W795delins

c.2382_2383delinsAC