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.R749insFs

c.2246_2247insA

Surrounding Variants

8 papers

NM_022552.5

p.R749L

c.2246G>T

1 paper

NM_022552.5

p.R749insFs

c.2246_2247ins29

2 papers

NM_022552.5

p.R749P

c.2246G>C

24 papers

NM_022552.5

p.R749H

c.2246G>A

1 paper

NM_022552.5

p.R749delFs

c.2245delG

1 paper

NM_022552.5

p.D748_R749delFs

c.2244_2245delGA

1 paper

NM_022552.5

p.D747_R749delFs

c.2241_2245del5

65 papers

NM_022552.5

p.R749C

c.2245C>T

12 papers

NM_022552.5

p.R749G

c.2245C>G

1 paper

NM_022552.5

p.R749insFs

c.2246_2247insG

3 papers

NM_022552.5

p.R749fs

c.2245_2246fs

1 paper

NM_022552.5

p.R749_P750ins7

c.2245_2249ins21