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

4 papers

NM_022552.5

p.G707R

c.2119G>C

Surrounding Variants

3 papers

NM_022552.5

p.G707C

c.2119G>T

9 papers

NM_022552.5

p.G707S

c.2119G>A

2 papers

NM_022552.5

p.I705_G706delFs

c.2114_2118del5

2 papers

NM_022552.5

p.G707fs

c.2119_2120fs

7 papers

NM_022552.5

p.G707V

c.2120G>T

1 paper

NM_022552.5

p.G707A

c.2120G>C

14 papers

NM_022552.5

p.G707D

c.2120G>A

1 paper

NM_022552.5

p.P700_G707delFs

c.2100_2119del20

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

1 paper

NM_022552.5

p.I705_G706delFs

c.2113_2116del4