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

10 papers

NM_022552.5

p.F734L

c.2202C>A

Surrounding Variants

10 papers

NM_022552.5

p.F734L

c.2202C>G

1 paper

NM_022552.5

p.F734fs

c.2200_2201fs

1 paper

NM_022552.5

p.F734delFs

c.2201delA

1 paper

NM_022552.5

p.F732_F734delFs

c.2194_2201del8

1 paper

NM_022552.5

p.F731_F734delFs

c.2192_2201del10

1 paper

NM_022552.5

p.F734insFs

c.2201_2202insAT

1 paper

NM_022552.5

p.F734insFs

c.2201_2202ins4

4 papers

NM_022552.5

p.F734C

c.2201T>G

1 paper

NM_022552.5

p.Y735D

c.2203T>G

4 papers

NM_022552.5

p.Y735H

c.2203T>C

2 papers

NM_022552.5

p.F734S

c.2201T>C

8 papers

NM_022552.5

p.Y735N

c.2203T>A