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

18 papers

NM_022552.5

p.V716D

c.2147T>A

Surrounding Variants

1 paper

NM_022552.5

p.V716G

c.2147T>G

2 papers

NM_022552.5

p.V716A

c.2147T>C

1 paper

NM_022552.5

p.V716delFs

c.2146delC

1 paper

NM_022552.5

p.L713_V716delFs

c.2139_2146del8

1 paper

NM_022552.5

p.D712_V716delFs

c.2134_2146del13

12 papers

NM_022552.5

p.V716F

c.2146G>T

1 paper

NM_022552.5

p.V716_N717insT

c.2146_2150ins3

18 papers

NM_022552.5

p.V716I

c.2146G>A

1 paper

NM_022552.5

p.I715delFs

c.2145delG

1 paper

NM_022552.5

p.V716fs

c.2146_2147fs

1 paper

NM_022552.5

p.I715_V716insFs

c.2145_2146insT

2 papers

NM_022552.5

p.I715delFs

c.2143_2144delAT