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.R882insFs

c.2644_2645insG

Surrounding Variants

437 papers

NM_022552.5

p.R882C

c.2644C>T

NM_001320893.1

p.R730C

c.2188C>T

13 papers

NM_022552.5

p.R882G

c.2644C>G

86 papers

NM_022552.5

p.R882S

c.2644C>A

NM_153759.3

p.R693S

c.2077C>A

NM_001375819.1

p.R659S

c.1975C>A

1 paper

NM_022552.5

p.R882fs

c.2644_2645fs

1 paper

NM_022552.5

p.S881delFs

c.2642_2643delGC

1 paper

NM_022552.5

p.M880_S881delFs

c.2640_2643del4

1 paper

NM_022552.5

p.M880_S881delFs

c.2639_2643del5

17 papers

NM_022552.5

p.R882L

c.2645G>T

1 paper

NM_022552.5

p.S881_R882insFs

c.2643_2644insC

99 papers

NM_022552.5

p.R882P

c.2645G>C

795 papers

NM_022552.5

p.R882H

c.2645G>A

2 papers

NM_022552.5

p.R882delFs

c.2644delG