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

2 papers

NM_022552.5

p.E865*

c.2593G>T

Surrounding Variants

3 papers

NM_022552.5

p.E865K

c.2593G>A

1 paper

NM_022552.5

p.E865fs

c.2593_2594fs

1 paper

NM_022552.5

p.M864I

c.2592G>T

1 paper

NM_022552.5

p.M864_E865insFs

c.2592_2593ins5

1 paper

NM_022552.5

p.M864fs

c.2590_2591fs

1 paper

NM_022552.5

p.M864I

c.2592G>C

1 paper

NM_022552.5

p.M864I

c.2592G>A

1 paper

NM_022552.5

p.M864delFs

c.2591delA

3 papers

NM_022552.5

p.E865V

c.2594A>T

1 paper

NM_022552.5

p.E865delFs

c.2593delC

1 paper

NM_022552.5

p.E863_E865Fs

c.2589_2594delinsGGFs

1 paper

NM_022552.5

p.M864R

c.2591T>G