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.P904fs

c.2710_2711fs

Surrounding Variants

11 papers

NM_022552.5

p.P904S

c.2710C>T

3 papers

NM_022552.5

p.P904A

c.2710C>G

1 paper

NM_022552.5

p.P904insFs

c.2710_2711ins4

1 paper

NM_022552.5

p.P904T

c.2710C>A

2 papers

NM_022552.5

p.A903delFs

c.2709delA

1 paper

NM_022552.5

p.A903fs

c.2707_2708fs

1 paper

NM_022552.5

p.A903delFs

c.2707_2708delGC

1 paper

NM_022552.5

p.R891_A903delFs

c.2672_2708del37

118 papers

NM_022552.5

p.P904L

c.2711C>T

4 papers

NM_022552.5

p.P904R

c.2711C>G

12 papers

NM_022552.5

p.P904Q

c.2711C>A

1 paper

NM_022552.5

p.A903_P904delFs

c.2707_2710del4