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.A151insFs

c.451dupG

Surrounding Variants

1 paper

NM_024757.5

p.A151G

c.452C>G

1 paper

NM_024757.5

p.G149A

c.446G>C

1 paper

NM_024757.5

p.G149fs

c.445_446fs

3 papers

NM_024757.5

p.P148P

c.444T>C

1 paper

NM_024757.5

p.P148S

c.442C>T

1 paper

NM_024757.5

p.L147Q

c.440T>A

1 paper

NM_024757.5

p.L147V

c.439C>G

1 paper

NM_024757.5

p.A144A

c.432C>T

1 paper

NM_024757.5

p.G158R

c.472G>A

1 paper

NM_024757.5

p.T142I

c.425C>T

1 paper

NM_024757.5

p.G160S

c.478G>A

1 paper

NM_024757.5

p.G160C

c.478G>T