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

9 papers

NM_022552.5

p.T862I

c.2585C>T

Surrounding Variants

1 paper

NM_022552.5

p.T862insFs

c.2585_2586insAC

1 paper

NM_022552.5

p.W860_T862delFs

c.2578_2584del7

1 paper

NM_022552.5

p.T862_E863insFs

c.2586_2587ins35

1 paper

NM_022552.5

p.T862delFs

c.2585delG

1 paper

NM_022552.5

p.T862delFs

c.2584_2585delGT

1 paper

NM_022552.5

p.T862fs

c.2584_2585fs

2 papers

NM_022552.5

p.T862A

c.2584A>G

1 paper

NM_022552.5

p.T862_E863insC

c.2584_2588ins3

2 papers

NM_022552.5

p.E863*

c.2587G>T

1 paper

NM_022552.5

p.T862_E863insFs

c.2586_2587ins35

2 papers

NM_022552.5

p.E863_M864ins4

c.2587_2591ins12

4 papers

NM_022552.5

p.E863K

c.2587G>A