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.H900delFs

c.2699delT

Surrounding Variants

1 paper

NM_022552.5

p.I898_H900delFs

c.2693_2699del7

1 paper

NM_022552.5

p.L889_H900delFs

c.2666_2699del34

3 papers

NM_022552.5

p.L901V

c.2701C>G

1 paper

NM_022552.5

p.L901I

c.2701C>A

1 paper

NM_022552.5

p.L901fs

c.2701_2702fs

1 paper

NM_022552.5

p.R887_H900delFs

c.2661_2700del40

1 paper

NM_022552.5

p.H900R

c.2699A>G

1 paper

NM_022552.5

p.H900P

c.2699A>C

1 paper

NM_022552.5

p.H900delFs

c.2698delG

1 paper

NM_022552.5

p.R891_H900del0

c.2672_2698del27

9 papers

NM_022552.5

p.L901R

c.2702T>G

3 papers

NM_022552.5

p.L901P

c.2702T>C