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.A628S

c.1882G>T

Surrounding Variants

2 papers

NM_022552.5

p.A628fs

c.1882_1883fs

1 paper

NM_022552.5

p.V626_P627del2

c.1876_1880del6

1 paper

NM_022552.5

p.V626insFs

c.1878dupC

6 papers

NM_022552.5

p.P627fs

c.1879_1880fs

7 papers

NM_022552.5

p.P627delFs

c.1880delG

2 papers

NM_022552.5

p.P627delFs

c.1879_1880delGG

1 paper

NM_022552.5

p.A628fs

c.1882_1883fs

1 paper

NM_022552.5

p.A628delFs

c.1883delG

2 papers

NM_022552.5

p.P627R

c.1880C>G

1 paper

NM_022552.5

p.P627Fs

c.1879_1880delinsTFs

1 paper

NM_022552.5

p.P624_P627delFs

c.1872_1879del8

2 papers

NM_022552.5

p.E629*

c.1885G>T