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.A3insFs

c.7dupG

Surrounding Variants

1 paper

NM_022552.5

p.A3delins

c.8delinsG

1 paper

NM_022552.5

p.A3S

c.7G>T

1 paper

NM_022552.5

p.M1_A3insFs

c.1_8dup8

1 paper

NM_022552.5

p.M1_A3delFs

c.1_8del8

1 paper

NM_022552.5

p.P2Fs

c.5delinsCATCTCGCGATTTCTCGAGGTFs

1 paper

NM_022552.5

p.M4L

c.10A>T

2 papers

NM_022552.5

p.M4V

c.10A>G

1 paper

NM_022552.5

p.M4L

c.10A>C

1 paper

NM_022552.5

p.A3insFs

c.8dupC

1 paper

NM_022552.5

p.M4I

c.12G>T

11 papers

NM_022552.5

p.M4I

c.12G>C

5 papers

NM_022552.5

p.M4I

c.12G>A