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.A597A

c.1791G>A

Surrounding Variants

1 paper

NM_024757.5

p.A597V

c.1790C>T

1 paper

NM_024757.5

p.G590insFs

c.1769dupG

1 paper

NM_024757.5

p.P589S

c.1765C>T

1 paper

NM_024757.5

p.Q586*

c.1756C>T

1 paper

NM_024757.5

p.M582V

c.1744A>G

1 paper

NM_024757.5

p.R579Q

c.1736G>A

1 paper

NM_024757.5

p.V573V

c.1719G>A

1 paper

NM_024757.5

p.P565A

c.1693C>G

2 papers

NM_024757.5

p.R564H

c.1691G>A

4 papers

NM_024757.5

p.G551D

c.1652G>A

1 paper

NM_024757.5

p.G551S

c.1651G>A

1 paper

NM_024757.5

p.A597_G598Splc

c.1792-2A>T