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

2 papers

NM_022552.5

p.C554*

c.1662C>A

Surrounding Variants

1 paper

NM_022552.5

p.C554fs

c.1660_1661fs

1 paper

NM_022552.5

p.C555G

c.1663T>G

1 paper

NM_022552.5

p.C555S

c.1663T>A

1 paper

NM_022552.5

p.C554delFs

c.1662delG

1 paper

NM_022552.5

p.C554F

c.1661G>T

1 paper

NM_022552.5

p.C554S

c.1661G>C

5 papers

NM_022552.5

p.C554Y

c.1661G>A

1 paper

NM_022552.5

p.C555fs

c.1663_1664fs

1 paper

NM_022552.5

p.C554G

c.1660T>G

1 paper

NM_022552.5

p.C554S

c.1660T>A

2 papers

NM_022552.5

p.N553delFs

c.1659delG

1 paper

NM_022552.5

p.N553del1

c.1657_1658delGTT