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.M267V

c.799A>G

Surrounding Variants

1 paper

NM_024757.5

p.M267I

c.801G>A

1 paper

NM_024757.5

p.A268G

c.803C>G

1 paper

NM_024757.5

p.A268V

c.803C>T

1 paper

NM_024757.5

p.Q264*

c.790C>T

1 paper

NM_024757.5

p.N263K

c.789C>A

1 paper

NM_024757.5

p.N263K

c.789C>G

1 paper

NM_024757.5

p.N263N

c.789C>T

2 papers

NM_024757.5

p.N263S

c.788A>G

1 paper

NM_024757.5

p.K271R

c.812A>G

1 paper

NM_024757.5

p.L260L

c.780A>C

1 paper

NM_024757.5

p.Q273R

c.818A>G

1 paper

NM_024757.5

p.Q273Q

c.819G>A