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.G124G

c.372A>T

Surrounding Variants

1 paper

NM_024757.5

p.N123S

c.368A>G

2 papers

NM_024757.5

p.N123I

c.368A>T

1 paper

NM_024757.5

p.L127*

c.380T>A

1 paper

NM_024757.5

p.L127*

c.380T>G

1 paper

NM_024757.5

p.G121D

c.362G>A

1 paper

NM_024757.5

p.G121S

c.361G>A

3 papers

NM_024757.5

p.T117T

c.351T>A

3 papers

NM_024757.5

p.T117T

c.351T>C

1 paper

NM_024757.5

p.T117T

c.351T>G

1 paper

NM_024757.5

p.Q116Q

c.348G>A

2 papers

NM_024757.5

p.Q116*

c.346C>T

1 paper

NM_024757.5

p.A134V

c.401C>T