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.R635fs

c.1903_1904fs

Surrounding Variants

108 papers

NM_022552.5

p.R635W

c.1903C>T

13 papers

NM_022552.5

p.R635G

c.1903C>G

9 papers

NM_022552.5

p.R635L

c.1904G>T

1 paper

NM_022552.5

p.P633_R635ins1

c.1898_1903dup6

7 papers

NM_022552.5

p.R635P

c.1904G>C

57 papers

NM_022552.5

p.R635Q

c.1904G>A

1 paper

NM_022552.5

p.R635Fs

c.1903_1904delinsTFs

1 paper

NM_022552.5

p.I634_R635delFs

c.1900_1903del4

2 papers

NM_022552.5

p.I634fs

c.1900_1901fs

1 paper

NM_022552.5

p.I634S

c.1901T>G

4 papers

NM_022552.5

p.I634T

c.1901T>C

2 papers

NM_022552.5

p.I634N

c.1901T>A