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

3 papers

NM_022552.5

p.I695T

c.2084T>C

Surrounding Variants

1 paper

NM_022552.5

p.I695insFs

c.2084_2085insC

1 paper

NM_022552.5

p.I695insFs

c.2083dupA

1 paper

NM_022552.5

p.I695S

c.2084T>G

4 papers

NM_022552.5

p.I695N

c.2084T>A

1 paper

NM_022552.5

p.I695delFs

c.2083delT

1 paper

NM_022552.5

p.I695fs

c.2083_2084fs

2 papers

NM_022552.5

p.I695delFs

c.2084delA

3 papers

NM_022552.5

p.I695fs

c.2083_2084fs

1 paper

NM_022552.5

p.I695F

c.2083A>T

1 paper

NM_022552.5

p.I695L

c.2083A>C

2 papers

NM_022552.5

p.H694_I695Splc

c.2083-1G>T

5 papers

NM_022552.5

p.H694_I695Splc

c.2083-1G>C