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.R556Splc

c.1667+2T>A

Surrounding Variants

3 papers

NM_022552.5

p.R556Splc

c.1667+2T>G

2 papers

NM_022552.5

p.R556Splc

c.1667+2T>C

7 papers

NM_022552.5

p.R556Splc

c.1667+1G>T

1 paper

NM_022552.5

p.R556Splc

c.1667+1G>C

23 papers

NM_022552.5

p.R556Splc

c.1667+1G>A

1 paper

NM_022552.5

p.C555_R556del1

c.1665_1667delCTG

1 paper

NM_022552.5

p.N553_R556del0

c.1659_1667del9

3 papers

NM_022552.5

p.R556M

c.1667G>T

1 paper

NM_022552.5

p.R556delFs

c.1666delT

2 papers

NM_022552.5

p.R556fs

c.1666_1667fs

1 paper

NM_022552.5

p.R556W

c.1666A>T

2 papers

NM_022552.5

p.R556G

c.1666A>G