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

5 papers

NM_022552.5

p.E863D

c.2589A>C

Surrounding Variants

5 papers

NM_022552.5

p.E863D

c.2589A>T

1 paper

NM_022552.5

p.M864fs

c.2590_2591fs

1 paper

NM_022552.5

p.M864L

c.2590A>T

1 paper

NM_022552.5

p.M864L

c.2590A>C

1 paper

NM_022552.5

p.M864R

c.2591T>G

1 paper

NM_022552.5

p.M864T

c.2591T>C

1 paper

NM_022552.5

p.M864K

c.2591T>A

2 papers

NM_022552.5

p.E863delFs

c.2589delT

1 paper

NM_022552.5

p.E856_M864delFs

c.2566_2590del25

2 papers

NM_022552.5

p.E863*

c.2587G>T

1 paper

NM_022552.5

p.T862_E863insFs

c.2586_2587ins35

2 papers

NM_022552.5

p.E863_M864ins4

c.2587_2591ins12