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.F701insFs

c.2103dupC

Surrounding Variants

2 papers

NM_022552.5

p.D702fs

c.2104_2105fs

12 papers

NM_022552.5

p.D702Y

c.2104G>T

6 papers

NM_022552.5

p.D702N

c.2104G>A

6 papers

NM_022552.5

p.F701L

c.2103C>G

2 papers

NM_022552.5

p.F701fs

c.2101_2102fs

6 papers

NM_022552.5

p.F701L

c.2103C>A

2 papers

NM_022552.5

p.F701delFs

c.2102delA

6 papers

NM_022552.5

p.D702V

c.2105A>T

3 papers

NM_022552.5

p.D702G

c.2105A>G

2 papers

NM_022552.5

p.D702A

c.2105A>C

2 papers

NM_022552.5

p.D702delFs

c.2104delC

2 papers

NM_022552.5

p.D702fs

c.2104_2105fs