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

11 papers

NM_022552.5

p.E733*

c.2197G>T

Surrounding Variants

15 papers

NM_022552.5

p.F732insFs

c.2196dupT

1 paper

NM_022552.5

p.F732_E733insFs

c.2196_2197insTT

3 papers

NM_022552.5

p.E733K

c.2197G>A

1 paper

NM_022552.5

p.F732delFs

c.2196delA

1 paper

NM_022552.5

p.F732delFs

c.2195_2196delAA

22 papers

NM_022552.5

p.F732del1

c.2194_2196delAAA

3 papers

NM_022552.5

p.F731_F732delFs

c.2193_2196del4

1 paper

NM_022552.5

p.F731_F732delFs

c.2192_2196del5

3 papers

NM_022552.5

p.F731_F732del2

c.2191_2195del6

5 papers

NM_022552.5

p.E733fs

c.2197_2198fs

1 paper

NM_022552.5

p.F732_E733insFs

c.2196_2197insAG

5 papers

NM_022552.5

p.F732fs

c.2194_2195fs