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.M607I

c.1821G>T

Surrounding Variants

1 paper

NM_022552.5

p.M607I

c.1821G>C

1 paper

NM_022552.5

p.M607I

c.1821G>A

1 paper

NM_022552.5

p.F608L

c.1822T>C

2 papers

NM_022552.5

p.M607delFs

c.1821delC

1 paper

NM_022552.5

p.Q606_M607delFs

c.1817_1821del5

1 paper

NM_022552.5

p.Q606_M607delFs

c.1818_1819delTC

1 paper

NM_022552.5

p.F608fs

c.1822_1823fs

2 papers

NM_022552.5

p.M607fs

c.1819_1820fs

1 paper

NM_022552.5

p.M607insFs

c.1819_1820insGA

1 paper

NM_022552.5

p.Q606H

c.1818G>T

1 paper

NM_022552.5

p.Q606fs

c.1816_1817fs

2 papers

NM_022552.5

p.Q606Q

c.1818G>A