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.N582S

c.1745A>G

Surrounding Variants

1 paper

NM_022552.5

p.N582insFs

c.1745_1746insCG

1 paper

NM_022552.5

p.N582K

c.1746C>G

1 paper

NM_022552.5

p.N582H

c.1744A>C

3 papers

NM_022552.5

p.C583R

c.1747T>C

5 papers

NM_022552.5

p.C583S

c.1747T>A

1 paper

NM_022552.5

p.P580_N582del0

c.1738_1746del9

18 papers

NM_022552.5

p.W581C

c.1743G>T

5 papers

NM_022552.5

p.W581fs

c.1741_1742fs

18 papers

NM_022552.5

p.W581C

c.1743G>C

19 papers

NM_022552.5

p.W581*

c.1743G>A

1 paper

NM_022552.5

p.W581delins

c.1742_1743delinsAT

1 paper

NM_022552.5

p.W581delins

c.1742_1743delinsTC