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.S336R

c.1006A>C

Surrounding Variants

1 paper

NM_024757.5

p.S336R

c.1008C>A

1 paper

NM_024757.5

p.S336R

c.1008C>G

1 paper

NM_024757.5

p.L332P

c.995T>C

1 paper

NM_024757.5

p.L332L

c.994C>T

1 paper

NM_024757.5

p.D331N

c.991G>A

1 paper

NM_024757.5

p.K330M

c.989A>T

1 paper

NM_024757.5

p.K330E

c.988A>G

1 paper

NM_024757.5

p.K330fs

c.988_989fs

1 paper

NM_024757.5

p.E329Q

c.985G>C

1 paper

NM_024757.5

p.E329_K330delFs

c.987_988delGA

1 paper

NM_024757.5

p.G328A

c.983G>C

1 paper

NM_024757.5

p.L344P

c.1031T>C