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.F752_W753del2

c.2254_2258del6

Surrounding Variants

1 paper

NM_022552.5

p.L754F

c.2260C>T

2 papers

NM_022552.5

p.L754fs

c.2260_2261fs

1 paper

NM_022552.5

p.W753delFs

c.2259delC

2 papers

NM_022552.5

p.D748_W753delFs

c.2243_2259del17

15 papers

NM_022552.5

p.L754R

c.2261T>G

8 papers

NM_022552.5

p.L754P

c.2261T>C

6 papers

NM_022552.5

p.L754H

c.2261T>A

1 paper

NM_022552.5

p.P750_L754del0

c.2249_2260del12

10 papers

NM_022552.5

p.W753C

c.2259G>T

2 papers

NM_022552.5

p.W753fs

c.2257_2258fs

10 papers

NM_022552.5

p.W753C

c.2259G>C

11 papers

NM_022552.5

p.W753*

c.2259G>A