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

1 paper

NM_022552.5

p.S764_K766delFs

c.2291_2298del8

Surrounding Variants

5 papers

NM_022552.5

p.R767fs

c.2299_2300fs

2 papers

NM_022552.5

p.R767G

c.2299A>G

2 papers

NM_022552.5

p.K766N

c.2298G>T

1 paper

NM_022552.5

p.R767insFs

c.2300_2301insAG

1 paper

NM_022552.5

p.R767insFs

c.2300_2301ins7

5 papers

NM_022552.5

p.K766fs

c.2296_2297fs

7 papers

NM_022552.5

p.K766insFs

c.2297dupA

2 papers

NM_022552.5

p.D765_R767insFs

c.2295_2299dup5

2 papers

NM_022552.5

p.K766N

c.2298G>C

3 papers

NM_022552.5

p.R767delFs

c.2299delT

1 paper

NM_022552.5

p.K766delFs

c.2297delT

1 paper

NM_022552.5

p.K766del1

c.2296_2297delCTT