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

2 papers

NM_022552.5

p.V626L

c.1876G>C

Surrounding Variants

1 paper

NM_022552.5

p.P619_P625ins2

c.1855_1875dup21

1 paper

NM_022552.5

p.P625delFs

c.1875delA

1 paper

NM_022552.5

p.V626fs

c.1876_1877fs

3 papers

NM_022552.5

p.P625fs

c.1873_1874fs

2 papers

NM_022552.5

p.P625delFs

c.1874delG

1 paper

NM_022552.5

p.V626_P627insFs

c.1878_1879insGG

3 papers

NM_022552.5

p.P625fs

c.1873_1874fs

1 paper

NM_022552.5

p.P627S

c.1879C>T

1 paper

NM_022552.5

p.P625S

c.1873C>T

1 paper

NM_022552.5

p.P624_P625insFs

c.1872_1873insA

1 paper

NM_022552.5

p.P627T

c.1879C>A

1 paper

NM_022552.5

p.P624delFs

c.1872delT