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.R604fs

c.1810_1811fs

Surrounding Variants

7 papers

NM_022552.5

p.R604W

c.1810C>T

1 paper

NM_022552.5

p.S603_R604Fs

c.1809_1810delinsACTFs

1 paper

NM_022552.5

p.R598_S603delFs

c.1793_1809del17

1 paper

NM_022552.5

p.S603insFs

c.1808dupC

1 paper

NM_022552.5

p.R604P

c.1811G>C

6 papers

NM_022552.5

p.R604Q

c.1811G>A

2 papers

NM_022552.5

p.R604delFs

c.1810delG

2 papers

NM_022552.5

p.S603fs

c.1807_1808fs

3 papers

NM_022552.5

p.R604fs

c.1810_1811fs

1 paper

NM_022552.5

p.W601_S603delFs

c.1801_1807del7

1 paper

NM_022552.5

p.P602insFs

c.1804dupC

1 paper

NM_022552.5

p.P602_S603insFs

c.1806_1807insCC