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.N611fs

c.1831_1832fs

Surrounding Variants

1 paper

NM_022552.5

p.F609_N611delFs

c.1827_1831del5

1 paper

NM_022552.5

p.N611fs

c.1831_1832fs

1 paper

NM_022552.5

p.N611insFs

c.1831_1832dupAA

1 paper

NM_022552.5

p.N611delFs

c.1831_1832delTT

3 papers

NM_022552.5

p.A610G

c.1829C>G

1 paper

NM_022552.5

p.A610delFs

c.1828delC

2 papers

NM_022552.5

p.F609delFs

c.1827delG

1 paper

NM_022552.5

p.N612fs

c.1834_1835fs

2 papers

NM_022552.5

p.F609fs

c.1825_1826fs

1 paper

NM_022552.5

p.F609delFs

c.1826delA

1 paper

NM_022552.5

p.F609insFs

c.1826_1827insA

2 papers

NM_022552.5

p.N612fs

c.1834_1835fs