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

1 paper

NM_022552.5

p.S839_I840insFs

c.2517_2518insCC

Surrounding Variants

1 paper

NM_022552.5

p.S839_I840insFs

c.2517_2518insC

1 paper

NM_022552.5

p.I840fs

c.2518_2519fs

2 papers

NM_022552.5

p.S839delFs

c.2517delG

1 paper

NM_022552.5

p.I840delFs

c.2518delT

1 paper

NM_022552.5

p.S839fs

c.2515_2516fs

1 paper

NM_022552.5

p.S837_S839delFs

c.2509_2516del8

1 paper

NM_022552.5

p.S839F

c.2516C>T

1 paper

NM_022552.5

p.S839C

c.2516C>G

1 paper

NM_022552.5

p.S839Y

c.2516C>A

1 paper

NM_022552.5

p.S839delFs

c.2515delA

1 paper

NM_022552.5

p.I840insFs

c.2519_2520insTT

1 paper

NM_022552.5

p.S839P

c.2515T>C