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

4 papers

NM_022552.5

p.L730_F732delFs

c.2190_2194del5

Surrounding Variants

13 papers

NM_022552.5

p.F732C

c.2195T>G

16 papers

NM_022552.5

p.F732S

c.2195T>C

3 papers

NM_022552.5

p.F731_F732delFs

c.2193_2194delAG

1 paper

NM_022552.5

p.G728_F732delFs

c.2182_2194del13

1 paper

NM_022552.5

p.F732_E733insFs

c.2196_2197insAG

5 papers

NM_022552.5

p.F732fs

c.2194_2195fs

20 papers

NM_022552.5

p.F732L

c.2196T>G

3 papers

NM_022552.5

p.F732V

c.2194T>G

20 papers

NM_022552.5

p.F732L

c.2194T>C

20 papers

NM_022552.5

p.F732L

c.2196T>A

1 paper

NM_022552.5

p.F732I

c.2194T>A

1 paper

NM_022552.5

p.F732fs

c.2194_2195fs