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.H611R

c.1832A>G

Surrounding Variants

1 paper

NM_024757.5

p.E606A

c.1817A>C

1 paper

NM_024757.5

p.P605S

c.1813C>T

1 paper

NM_024757.5

p.S619F

c.1856C>T

1 paper

NM_024757.5

p.C603R

c.1807T>C

1 paper

NM_024757.5

p.R620R

c.1858C>A

4 papers

NM_024757.5

p.R620*

c.1858C>T

1 paper

NM_024757.5

p.G598fs

c.1792_1793fs

1 paper

NM_024757.5

p.A597_G598Splc

c.1792-2A>T

1 paper

NM_024757.5

p.G598delFs

c.1793delG

1 paper

NM_024757.5

p.Y626H

c.1876T>C

1 paper

NM_024757.5

p.C627insFs

c.1879dupT

1 paper

NM_024757.5

p.C630_K644del15

c.1888_1931del45