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.I705_G706delFs

c.2113_2116del4

Surrounding Variants

2 papers

NM_022552.5

p.G706V

c.2117G>T

1 paper

NM_022552.5

p.G706insFs

c.2117_2118ins7

6 papers

NM_022552.5

p.G706E

c.2117G>A

4 papers

NM_022552.5

p.G706W

c.2116G>T

11 papers

NM_022552.5

p.G706R

c.2116G>C

11 papers

NM_022552.5

p.G706R

c.2116G>A

2 papers

NM_022552.5

p.I705delFs

c.2115delA

1 paper

NM_022552.5

p.G706fs

c.2116_2117fs

1 paper

NM_022552.5

p.I705fs

c.2113_2114fs

1 paper

NM_022552.5

p.L703_I705delFs

c.2107_2114del8

3 papers

NM_022552.5

p.G707C

c.2119G>T

4 papers

NM_022552.5

p.G707R

c.2119G>C