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.L738V

c.2212C>G

Surrounding Variants

1 paper

NM_022552.5

p.L738fs

c.2212_2213fs

1 paper

NM_022552.5

p.L738insFs

c.2212_2213insC

2 papers

NM_022552.5

p.L738P

c.2213T>C

2 papers

NM_022552.5

p.L738Q

c.2213T>A

1 paper

NM_022552.5

p.L738delFs

c.2212delG

1 paper

NM_022552.5

p.L737insFs

c.2210_2211insT

1 paper

NM_022552.5

p.L737fs

c.2209_2210fs

3 papers

NM_022552.5

p.L737delFs

c.2210delA

16 papers

NM_022552.5

p.L737R

c.2210T>G

4 papers

NM_022552.5

p.L737P

c.2210T>C

8 papers

NM_022552.5

p.L737H

c.2210T>A

2 papers

NM_022552.5

p.R736delFs

c.2208delG