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.F732_R736delFs

c.2194_2207del14

Surrounding Variants

1 paper

NM_022552.5

p.R736fs

c.2206_2207fs

1 paper

NM_022552.5

p.E733_R736delFs

c.2198_2207del10

9 papers

NM_022552.5

p.R736L

c.2207G>T

5 papers

NM_022552.5

p.R736P

c.2207G>C

101 papers

NM_022552.5

p.R736H

c.2207G>A

1 paper

NM_022552.5

p.R736delFs

c.2206delG

1 paper

NM_022552.5

p.R736delins

c.2206_2207delinsGA

10 papers

NM_022552.5

p.L737F

c.2209C>T

1 paper

NM_022552.5

p.L737V

c.2209C>G

2 papers

NM_022552.5

p.L737fs

c.2209_2210fs

1 paper

NM_022552.5

p.F732_R736del5

c.2194_2207del15

16 papers

NM_022552.5

p.L737R

c.2210T>G