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.F772_L773insFs

c.2316_2317insTT

Surrounding Variants

3 papers

NM_022552.5

p.L773V

c.2317C>G

4 papers

NM_022552.5

p.L773I

c.2317C>A

5 papers

NM_022552.5

p.F772delFs

c.2316delA

1 paper

NM_022552.5

p.F772delFs

c.2315_2316delAA

2 papers

NM_022552.5

p.L773fs

c.2317_2318fs

3 papers

NM_022552.5

p.F772fs

c.2314_2315fs

5 papers

NM_022552.5

p.L773R

c.2318T>G

2 papers

NM_022552.5

p.F772L

c.2316T>G

6 papers

NM_022552.5

p.L773P

c.2318T>C

4 papers

NM_022552.5

p.L773H

c.2318T>A

3 papers

NM_022552.5

p.F772L

c.2316T>A

1 paper

NM_022552.5

p.L773delFs

c.2317delG