Varaico: Literature-Extracted Genetic Variants

EHMT1

560 papers

RefSeq Summary

The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for tr...

Pfam Domains

EHMT1-2_CRRaa 540–633UCSCHistone-lysine N-methyltransferase EHMT1/EHMT2, Cys-rich region

Ank_2aa 742–836UCSCAnkyrin repeats (3 copies)

Ank_2aa 828–903UCSCAnkyrin repeats (3 copies)

Ank_2aa 910–997UCSCAnkyrin repeats (3 copies)

Pre-SETaa 1015–1118UCSCPre-SET motif

SETaa 1137–1243UCSCSET domain

Gene Aliases

HGNC Name

euchromatic histone lysine methyltransferase 1

HGNC Previous Symbol

EHMT1-IT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_024757.5

p.D35N

c.103G>A

Surrounding Variants

1 paper

NM_024757.5

p.D35G

c.104A>G

1 paper

NM_024757.5

p.A34_D35insC

c.100_104ins3

1 paper

NM_024757.5

p.E36D

c.108A>C

1 paper

NM_024757.5

p.E36D

c.108A>T

1 paper

NM_024757.5

p.G37Fs

c.109delinsATFs

1 paper

NM_024757.5

p.G37fs

c.109_110fs

1 paper

NM_024757.5

p.G37D

c.110G>A

1 paper

NM_024757.5

p.M32T

c.95T>C

1 paper

NM_024757.5

p.S38_A39insA

c.112_116ins3

1 paper

NM_024757.5

p.P31A

c.91C>G

1 paper

NM_001354259.2

p.A8fs

c.22_23fs

1 paper

NM_024757.5

p.E40K

c.118G>A