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

7 papers

NM_022552.5

p.Q696delFs

c.2086delG

Surrounding Variants

4 papers

NM_022552.5

p.Q696P

c.2087A>C

1 paper

NM_022552.5

p.Q696insFs

c.2086dupC

1 paper

NM_022552.5

p.I695_Q696delFs

c.2085_2086delGG

6 papers

NM_022552.5

p.Q696fs

c.2086_2087fs

3 papers

NM_022552.5

p.Q696fs

c.2086_2087fs

11 papers

NM_022552.5

p.Q696*

c.2086C>T

1 paper

NM_022552.5

p.I695_Q696delins

c.2085_2086delinsTT

5 papers

NM_022552.5

p.E697*

c.2089G>T

2 papers

NM_022552.5

p.E697fs

c.2089_2090fs

1 paper

NM_022552.5

p.I695fs

c.2083_2084fs

2 papers

NM_022552.5

p.I695delFs

c.2084delA

1 paper

NM_022552.5

p.I695insFs

c.2084_2085insC