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.P709delFs

c.2127delG

Surrounding Variants

20 papers

NM_022552.5

p.C710S

c.2128T>A

1 paper

NM_022552.5

p.S708_P709del2

c.2122_2126del6

1 paper

NM_022552.5

p.P700_P709delFs

c.2100_2127del28

1 paper

NM_022552.5

p.C710fs

c.2128_2129fs

20 papers

NM_022552.5

p.C710S

c.2129G>C

12 papers

NM_022552.5

p.C710Y

c.2129G>A

1 paper

NM_022552.5

p.C710delFs

c.2128delA

1 paper

NM_022552.5

p.S708_C710delFs

c.2124_2128del5

1 paper

NM_153759.3

p.P520P

c.1560C>A

3 papers

NM_022552.5

p.P709L

c.2126C>T

1 paper

NM_022552.5

p.C710fs

c.2128_2129fs

1 paper

NM_022552.5

p.C710*

c.2130C>A