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

27 papers

NM_022552.5

p.W330*

c.989G>A

Surrounding Variants

2 papers

NM_022552.5

p.V328_W330delFs

c.984_988del5

17 papers

NM_022552.5

p.W330R

c.988T>C

16 papers

NM_022552.5

p.W330R

c.988T>A

27 papers

NM_022552.5

p.W330*

c.990G>A

3 papers

NM_022552.5

p.W330fs

c.988_989fs

4 papers

NM_022552.5

p.F331V

c.991T>G

2 papers

NM_022552.5

p.F331L

c.991T>C

1 paper

NM_022552.5

p.F331I

c.991T>A

1 paper

NM_022552.5

p.W330delFs

c.990delC

1 paper

NM_022552.5

p.M329I

c.987G>T

2 papers

NM_022552.5

p.M329fs

c.985_986fs

1 paper

NM_022552.5

p.M329I

c.987G>C