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

4 papers

NM_022552.5

p.D641V

c.1922A>T

Surrounding Variants

3 papers

NM_022552.5

p.D641G

c.1922A>G

1 paper

NM_022552.5

p.I634_D641delFs

c.1900_1922del23

1 paper

NM_022552.5

p.F640insFs

c.1920dupT

1 paper

NM_022552.5

p.D641Fs

c.1921delinsAGFs

1 paper

NM_022552.5

p.D641N

c.1921G>A

1 paper

NM_022552.5

p.F640delFs

c.1920delA

4 papers

NM_022552.5

p.F640delFs

c.1919_1920delAA

1 paper

NM_022552.5

p.F640del1

c.1918_1919delAAA

1 paper

NM_022552.5

p.L639_F640delFs

c.1917_1920del4

6 papers

NM_022552.5

p.F640fs

c.1918_1919fs

1 paper

NM_022552.5

p.F640L

c.1920T>G

1 paper

NM_022552.5

p.F640L

c.1920T>A