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

9 papers

NM_022552.5

p.W581G

c.1741T>G

Surrounding Variants

1 paper

NM_022552.5

p.P580insFs

c.1740dupC

16 papers

NM_022552.5

p.W581R

c.1741T>C

15 papers

NM_022552.5

p.W581R

c.1741T>A

4 papers

NM_022552.5

p.P580delFs

c.1740delG

1 paper

NM_022552.5

p.D579_P580del1

c.1737_1739delGGG

2 papers

NM_022552.5

p.W581fs

c.1741_1742fs

1 paper

NM_022552.5

p.W581L

c.1742G>T

3 papers

NM_022552.5

p.W581S

c.1742G>C

19 papers

NM_022552.5

p.W581*

c.1742G>A

1 paper

NM_022552.5

p.W581delFs

c.1741delA

18 papers

NM_022552.5

p.W581C

c.1743G>T

5 papers

NM_022552.5

p.W581fs

c.1741_1742fs