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.C861G

c.2581T>G

Surrounding Variants

1 paper

NM_022552.5

p.W860_C861insFs

c.2580_2581insG

2 papers

NM_022552.5

p.C861R

c.2581T>C

1 paper

NM_022552.5

p.C861S

c.2581T>A

1 paper

NM_022552.5

p.M852_W860delFs

c.2556_2580del25

3 papers

NM_022552.5

p.C861fs

c.2581_2582fs

4 papers

NM_022552.5

p.W860fs

c.2578_2579fs

1 paper

NM_022552.5

p.C861S

c.2582G>C

18 papers

NM_022552.5

p.W860*

c.2580G>A

1 paper

NM_022552.5

p.C861Y

c.2582G>A

1 paper

NM_022552.5

p.W860_C861delFs

c.2578_2581del4

1 paper

NM_022552.5

p.W860L

c.2579G>T

17 papers

NM_022552.5

p.W860*

c.2579G>A