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.P777fs

c.2329_2330fs

Surrounding Variants

5 papers

NM_022552.5

p.P777S

c.2329C>T

1 paper

NM_022552.5

p.N776insFs

c.2327_2328insAC

1 paper

NM_022552.5

p.P777_V778insT

c.2329_2333ins3

1 paper

NM_022552.5

p.P777T

c.2329C>A

9 papers

NM_022552.5

p.P777L

c.2330C>T

12 papers

NM_022552.5

p.P777R

c.2330C>G

1 paper

NM_022552.5

p.N776fs

c.2326_2327fs

8 papers

NM_022552.5

p.P777H

c.2330C>A

1 paper

NM_022552.5

p.N776delFs

c.2327delT

1 paper

NM_022552.5

p.N776insFs

c.2328dupC

3 papers

NM_022552.5

p.P777fs

c.2329_2330fs

3 papers

NM_022552.5

p.P777delFs

c.2330delG