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.R736fs

c.2206_2207fs

Surrounding Variants

77 papers

NM_022552.5

p.R736C

c.2206C>T

3 papers

NM_022552.5

p.R736G

c.2206C>G

6 papers

NM_022552.5

p.R736S

c.2206C>A

1 paper

NM_022552.5

p.F732_Y735delFs

c.2195_2205del11

9 papers

NM_022552.5

p.R736L

c.2207G>T

5 papers

NM_022552.5

p.R736P

c.2207G>C

101 papers

NM_022552.5

p.R736H

c.2207G>A

1 paper

NM_022552.5

p.R736delFs

c.2206delG

1 paper

NM_022552.5

p.R736delins

c.2206_2207delinsGA

5 papers

NM_022552.5

p.Y735*

c.2205C>G

1 paper

NM_022552.5

p.Y735insFs

c.2204_2205insA

5 papers

NM_022552.5

p.Y735*

c.2205C>A