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.P307Q

c.920C>A

Surrounding Variants

14 papers

NM_022552.5

p.P307L

c.920C>T

18 papers

NM_022552.5

p.P307R

c.920C>G

1 paper

NM_022552.5

p.F303_P307delFs

c.907_919del13

19 papers

NM_022552.5

p.P307S

c.919C>T

1 paper

NM_022552.5

p.P307A

c.919C>G

1 paper

NM_022552.5

p.P307T

c.919C>A

2 papers

NM_022552.5

p.W306delFs

c.918delC

1 paper

NM_022552.5

p.W305_W306del0

c.913_918del6

1 paper

NM_022552.5

p.P307fs

c.919_920fs

5 papers

NM_022552.5

p.W306C

c.918G>T

5 papers

NM_022552.5

p.W306C

c.918G>C

19 papers

NM_022552.5

p.W306*

c.918G>A