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.L605fs

c.1813_1814fs

Surrounding Variants

1 paper

NM_022552.5

p.L605L

c.1815C>A

1 paper

NM_022552.5

p.L605delFs

c.1814delA

1 paper

NM_022552.5

p.L605delFs

c.1813delG

1 paper

NM_022552.5

p.R598_L605del0

c.1793_1813del21

1 paper

NM_022552.5

p.Q606fs

c.1816_1817fs

15 papers

NM_022552.5

p.Q606*

c.1816C>T

1 paper

NM_022552.5

p.L605delFs

c.1814_1815delGA

1 paper

NM_022552.5

p.L605delins

c.1813_1814delinsAT

1 paper

NM_022552.5

p.L605fs

c.1813_1814fs

1 paper

NM_022552.5

p.R604delFs

c.1812delC

1 paper

NM_022552.5

p.Q606delFs

c.1816delG

1 paper

NM_022552.5

p.Q606H

c.1818G>T