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.K744fs

c.2230_2231fs

Surrounding Variants

4 papers

NM_022552.5

p.K744*

c.2230A>T

1 paper

NM_022552.5

p.K744Q

c.2230A>C

2 papers

NM_022552.5

p.P743insFs

c.2227dupC

4 papers

NM_022552.5

p.P743delFs

c.2228delG

1 paper

NM_022552.5

p.P743fs

c.2227_2228fs

1 paper

NM_022552.5

p.P743_K744insFs

c.2229_2230insTA

1 paper

NM_022552.5

p.K744insFs

c.2231_2232insG

1 paper

NM_022552.5

p.K744fs

c.2230_2231fs

1 paper

NM_022552.5

p.K744insFs

c.2231_2232insA

3 papers

NM_001320893.1

p.K592delFs

c.1775delT

NM_022552.5

p.K744delFs

c.2231delT

1 paper

NM_022552.5

p.F732_K744delFs

c.2195_2231del37

9 papers

NM_022552.5

p.P743L

c.2228C>T