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.H613L

c.1838A>T

Surrounding Variants

2 papers

NM_022552.5

p.H613delFs

c.1837delG

1 paper

NM_022552.5

p.F609_H613delFs

c.1827_1837del11

1 paper

NM_022552.5

p.H613fs

c.1837_1838fs

2 papers

NM_022552.5

p.N612fs

c.1834_1835fs

1 paper

NM_022552.5

p.D614fs

c.1840_1841fs

1 paper

NM_022552.5

p.D614V

c.1841A>T

1 paper

NM_022552.5

p.D614delFs

c.1840delC

1 paper

NM_022552.5

p.N612fs

c.1834_1835fs

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

1 paper

NM_022552.5

p.Q615fs

c.1843_1844fs