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.M761_D765insFs

c.2282_2295dup14

Surrounding Variants

8 papers

NM_022552.5

p.K766fs

c.2296_2297fs

1 paper

NM_022552.5

p.K766*

c.2296A>T

1 paper

NM_022552.5

p.K766E

c.2296A>G

1 paper

NM_022552.5

p.D765del1

c.2293_2294delGTC

1 paper

NM_022552.5

p.K766insFs

c.2297_2298insT

1 paper

NM_022552.5

p.D765_K766delFs

c.2295_2296delTG

2 papers

NM_022552.5

p.K766N

c.2298G>T

5 papers

NM_022552.5

p.K766fs

c.2296_2297fs

7 papers

NM_022552.5

p.K766insFs

c.2297dupA

2 papers

NM_022552.5

p.K766N

c.2298G>C

1 paper

NM_022552.5

p.K766delFs

c.2297delT

8 papers

NM_022552.5

p.K766delFs

c.2296_2297delTT