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.L703Q

c.2108T>A

Surrounding Variants

1 paper

NM_022552.5

p.L703R

c.2108T>G

5 papers

NM_022552.5

p.L703P

c.2108T>C

1 paper

NM_022552.5

p.P700_L703delFs

c.2100_2107del8

1 paper

NM_022552.5

p.L703fs

c.2107_2108fs

2 papers

NM_022552.5

p.L703delFs

c.2108delA

1 paper

NM_022552.5

p.L703delFs

c.2107_2108delAG

3 papers

NM_022552.5

p.L703fs

c.2107_2108fs

7 papers

NM_022552.5

p.L703V

c.2107C>G

1 paper

NM_022552.5

p.L703_V704insT

c.2107_2111ins3

1 paper

NM_022552.5

p.D702delFs

c.2105_2106delAT

2 papers

NM_022552.5

p.D702fs

c.2104_2105fs

1 paper

NM_022552.5

p.D702_L703insFs

c.2106_2107insA