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.D768_I769insC

c.2302_2306ins3

Surrounding Variants

3 papers

NM_022552.5

p.D768Y

c.2302G>T

2 papers

NM_022552.5

p.D768H

c.2302G>C

3 papers

NM_022552.5

p.D768N

c.2302G>A

6 papers

NM_022552.5

p.D768fs

c.2302_2303fs

1 paper

NM_022552.5

p.R767S

c.2301G>T

4 papers

NM_022552.5

p.R767fs

c.2299_2300fs

1 paper

NM_022552.5

p.R767S

c.2301G>C

2 papers

NM_022552.5

p.D768V

c.2303A>T

6 papers

NM_022552.5

p.D768G

c.2303A>G

1 paper

NM_022552.5

p.D768A

c.2303A>C

1 paper

NM_022552.5

p.R767insFs

c.2300dupG

1 paper

NM_022552.5

p.R767_D768insFs

c.2301_2302dupGG