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.K855N

c.2565A>C

Surrounding Variants

1 paper

NM_022552.5

p.K855N

c.2565A>T

6 papers

NM_022552.5

p.E856*

c.2566G>T

3 papers

NM_022552.5

p.K855insFs

c.2563dupA

2 papers

NM_022552.5

p.E856fs

c.2566_2567fs

1 paper

NM_022552.5

p.K855delFs

c.2564_2565delTT

1 paper

NM_022552.5

p.Q842_K855del14

c.2524_2564del42

1 paper

NM_022552.5

p.K855T

c.2564A>C

2 papers

NM_022552.5

p.K855*

c.2563A>T

2 papers

NM_022552.5

p.E856G

c.2567A>G

1 paper

NM_022552.5

p.K855E

c.2563A>G

1 paper

NM_022552.5

p.N853_E854delFs

c.2559_2562del4

1 paper

NM_022552.5

p.F851_E856delFs

c.2553_2566del14