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

2 papers

NM_022552.5

p.R899fs

c.2695_2696fs

Surrounding Variants

1 paper

NM_022552.5

p.R899R

c.2697C>T

1 paper

NM_022552.5

p.V897_R899insFs

c.2690_2696dup7

1 paper

NM_022552.5

p.L888_R899delFs

c.2663_2696del34

3 papers

NM_022552.5

p.R899L

c.2696G>T

1 paper

NM_022552.5

p.I898_R899insFs

c.2692_2695dup4

3 papers

NM_022552.5

p.R899P

c.2696G>C

23 papers

NM_022552.5

p.R899H

c.2696G>A

3 papers

NM_022552.5

p.R899delFs

c.2695delG

1 paper

NM_022552.5

p.I898_R899delFs

c.2692_2695del4

1 paper

NM_022552.5

p.L889_R899delFs

c.2665_2695del31

1 paper

NM_022552.5

p.L888_R899del0

c.2663_2695del33

1 paper

NM_022552.5

p.Q886_R899delFs

c.2656_2695del40