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

1 paper

NM_024757.5

p.R204H

c.611G>A

Surrounding Variants

2 papers

NM_024757.5

p.P208L

c.623C>T

1 paper

NM_024757.5

p.P208P

c.624G>A

1 paper

NM_024757.5

p.K209R

c.626A>G

1 paper

NM_024757.5

p.S210Y

c.629C>A

2 papers

NM_024757.5

p.V211I

c.631G>A

1 paper

NM_024757.5

p.V211V

c.633C>T

1 paper

NM_024757.5

p.D197N

c.589G>A

1 paper

NM_024757.5

p.A196V

c.587C>T

1 paper

NM_024757.5

p.A196insFs

c.586dupG

1 paper

NM_024757.5

p.L214insFs

c.641_642insC

1 paper

NM_024757.5

p.A193V

c.578C>T

1 paper

NM_024757.5

p.D185delFs

c.554_555delAC