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

11 papers

NM_024757.5

p.N904_E905Splc

c.2712+1G>A

Surrounding Variants

1 paper

NM_024757.5

p.D903G

c.2708A>G

3 papers

NM_024757.5

p.R902*

c.2704C>T

2 papers

NM_024757.5

p.L892R

c.2675T>G

1 paper

NM_024757.5

p.V889M

c.2665G>A

1 paper

NM_024757.5

p.E882fs

c.2644_2645fs

1 paper

NM_024757.5

p.E882delFs

c.2645_2646delAG

1 paper

NM_024757.5

p.W879*

c.2637G>A

1 paper

NM_024757.5

p.W879*

c.2636G>A

1 paper

NM_024757.5

p.G873V

c.2618G>T

1 paper

NM_024757.5

p.Q869_D870Splc

c.2608-1G>C

1 paper

NM_024757.5

p.Q869_D870Splc

c.2607+1G>A

1 paper

NM_024757.5

p.Q863*

c.2587C>T