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

3 papers

NM_022552.5

p.D333A

c.998A>C

Surrounding Variants

1 paper

NM_022552.5

p.D333V

c.998A>T

1 paper

NM_022552.5

p.D333delFs

c.997delC

15 papers

NM_022552.5

p.D333N

c.997G>A

2 papers

NM_022552.5

p.D333fs

c.997_998fs

1 paper

NM_022552.5

p.G334R

c.1000G>C

3 papers

NM_022552.5

p.G334S

c.1000G>A

1 paper

NM_022552.5

p.G332fs

c.994_995fs

2 papers

NM_022552.5

p.G332V

c.995G>T

10 papers

NM_022552.5

p.G332E

c.995G>A

3 papers

NM_022552.5

p.G334D

c.1001G>A

2 papers

NM_022552.5

p.F331_G332del1

c.992_994delCGA

2 papers

NM_022552.5

p.G332*

c.994G>T