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

2 papers

NM_022552.5

p.Q842H

c.2526G>C

Surrounding Variants

2 papers

NM_022552.5

p.Q842H

c.2526G>T

3 papers

NM_022552.5

p.Q842fs

c.2524_2525fs

1 paper

NM_022552.5

p.G843insFs

c.2527_2528ins4

1 paper

NM_022552.5

p.G843S

c.2527G>A

1 paper

NM_022552.5

p.G843fs

c.2527_2528fs

15 papers

NM_022552.5

p.Q842R

c.2525A>G

1 paper

NM_022552.5

p.S839_Q842delFs

c.2517_2524del8

1 paper

NM_022552.5

p.S839_Q842delFs

c.2515_2524del10

2 papers

NM_022552.5

p.G843D

c.2528G>A

1 paper

NM_022552.5

p.Q842fs

c.2524_2525fs

14 papers

NM_022552.5

p.Q842*

c.2524C>T

3 papers

NM_022552.5

p.Q842E

c.2524C>G