Varaico: Literature-Extracted Genetic Variants

DNMT1

624 papers

RefSeq Summary

This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replica...

Pfam Domains

DMAP_bindingaa 16–105UCSCDMAP1-binding Domain

DNMT1-RFDaa 399–534UCSCCytosine specific DNA methyltransferase replication foci domain

zf-CXXCaa 645–691UCSCCXXC zinc finger domain

BAHaa 755–880UCSCBAH domain

BAHaa 931–1100UCSCBAH domain

DNA_methylaseaa 1139–1594UCSCC-5 cytosine-specific DNA methylase

Gene Aliases

HGNC Name

DNA methyltransferase 1

HGNC Alias Symbols

MCMT; CXXC9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130823.3

p.R101W

c.301C>T

Surrounding Variants

1 paper

NM_001130823.3

p.N100K

c.300C>G

1 paper

NM_001130823.3

p.N100K

c.300C>A

1 paper

NM_001130823.3

p.E102Q

c.304G>C

1 paper

NM_001130823.3

p.Y99S

c.296A>C

1 paper

NM_001130823.3

p.A98insFs

c.293_294insC

1 paper

NM_001130823.3

p.V103E

c.308T>A

2 papers

NM_001130823.3

p.N104D

c.310A>G

17 papers

NM_001130823.3

p.H97R

c.290A>G

1 paper

NM_001130823.3

p.H97Y

c.289C>T

1 paper

NM_001130823.3

p.A96_H97insFs

c.288_289insC

1 paper

NM_001130823.3

p.A96P

c.286G>C

1 paper

NM_001130823.3

p.R106H

c.317G>A