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.E774_S775Splc

c.2322+1G>T

Surrounding Variants

2 papers

NM_022552.5

p.E774_S775Splc

c.2322+1G>C

15 papers

NM_022552.5

p.E774_S775Splc

c.2322+1G>A

1 paper

NM_022552.5

p.L773_E774delFs

c.2318_2322del5

3 papers

NM_022552.5

p.L773_E774del0

c.2317_2322del6

3 papers

NM_022552.5

p.E774_S775Splc

c.2322+2T>G

4 papers

NM_022552.5

p.E774_S775Splc

c.2322+2T>C

1 paper

NM_022552.5

p.E774_S775Splc

c.2322+2T>A

1 paper

NM_022552.5

p.E774del1

c.2320_2321delCTC

7 papers

NM_022552.5

p.E774D

c.2322G>T

7 papers

NM_022552.5

p.E774D

c.2322G>C

1 paper

NM_022552.5

p.E774E

c.2322G>A

1 paper

NM_022552.5

p.F772_E774delFs

c.2314_2321del8