Varaico: Literature-Extracted Genetic Variants

DNMT3L

80 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

ADD_DNMT3aa 34–89UCSCDNMT3, cysteine rich ADD domain, GATA1-like zinc finger

DNMT3_ADD_GATA1-likeaa 96–145UCSCDNMT3, ADD PHD zinc finger

Gene Aliases

HGNC Name

DNA methyltransferase 3 like

HGNC Alias Symbol

MGC1090

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

8 papers

NM_175867.3

p.R278G

c.832A>G

5 papers

NM_175867.3

p.R271Q

c.812G>A

1 paper

NM_175867.3

p.I4N

c.11T>A

1 paper

NM_175867.3

p.S14G

c.40A>G

1 paper

NM_175867.3

p.S28A

c.82T>G

1 paper

NM_175867.3

p.D36N

c.106G>A

1 paper

NM_175867.3

p.L37insFs

c.111dupT

1 paper

NM_175867.3

p.R47*

c.139C>T

1 paper

NM_175867.3

p.C53Y

c.158G>A

1 paper

NM_175867.3

p.V61G

c.182T>G

1 paper

NM_175867.3

p.H62Y

c.184C>T

1 paper

NM_175867.3

p.G70E

c.209G>A