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.C802S

c.2404T>A

Surrounding Variants

1 paper

NM_024757.5

p.C802S

c.2405G>C

1 paper

NM_024757.5

p.D805insFs

c.2414_2415insGG

1 paper

NM_024757.5

p.N798D

c.2392A>G

1 paper

NM_024757.5

p.A797T

c.2389G>A

1 paper

NM_024757.5

p.A797delFs

c.2390delC

1 paper

NM_024757.5

p.A797fs

c.2389_2390fs

1 paper

NM_024757.5

p.G796fs

c.2386_2387fs

1 paper

NM_024757.5

p.G796delFs

c.2387delG

6 papers

NM_024757.5

p.P809L

c.2426C>T

1 paper

NM_024757.5

p.M811_E812Fs

c.2431_2435delinsTGGGFs

1 paper

NM_024757.5

p.Q794_A795Splc

c.2383-12T>G

1 paper

NM_001354259.2

p.E784K

c.2350G>A