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

7 papers

NM_022552.5

p.K841Q

c.2521A>C

Surrounding Variants

1 paper

NM_022552.5

p.K841fs

c.2521_2522fs

1 paper

NM_022552.5

p.K841*

c.2521A>T

7 papers

NM_022552.5

p.K841E

c.2521A>G

1 paper

NM_022552.5

p.I840delFs

c.2519_2520delTA

1 paper

NM_022552.5

p.I840insFs

c.2519_2520insTT

1 paper

NM_022552.5

p.I840delFs

c.2518delT

1 paper

NM_022552.5

p.I840insFs

c.2520dupA

1 paper

NM_022552.5

p.K841delFs

c.2522delT

1 paper

NM_022552.5

p.Q842fs

c.2524_2525fs

14 papers

NM_022552.5

p.Q842*

c.2524C>T

3 papers

NM_022552.5

p.Q842E

c.2524C>G

1 paper

NM_022552.5

p.K841delFs

c.2523delC