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

111 papers

NM_022552.5

p.Y735C

c.2204A>G

Surrounding Variants

2 papers

NM_022552.5

p.Y735F

c.2204A>T

31 papers

NM_022552.5

p.Y735S

c.2204A>C

2 papers

NM_022552.5

p.F732_Y735ins1

c.2195_2203dup9

1 paper

NM_022552.5

p.Y735insFs

c.2204_2205insC

1 paper

NM_022552.5

p.Y735insFs

c.2204_2205insTA

1 paper

NM_022552.5

p.F732_Y735del0

c.2195_2203del9

1 paper

NM_022552.5

p.Y735D

c.2203T>G

4 papers

NM_022552.5

p.Y735H

c.2203T>C

8 papers

NM_022552.5

p.Y735N

c.2203T>A

2 papers

NM_022552.5

p.F734delFs

c.2202delG

5 papers

NM_022552.5

p.Y735*

c.2205C>G

1 paper

NM_022552.5

p.Y735insFs

c.2204_2205insA