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.G56del1

c.166_168delGGG

Surrounding Variants

1 paper

NM_024757.5

p.N55D

c.163A>G

1 paper

NM_024757.5

p.G56G

c.168G>C

1 paper

NM_024757.5

p.S57T

c.169T>A

1 paper

NM_024757.5

p.E53V

c.158A>T

2 papers

NM_024757.5

p.E53K

c.157G>A

1 paper

NM_024757.5

p.E53*

c.157G>T

1 paper

NM_024757.5

p.C58*

c.174T>A

1 paper

NM_024757.5

p.E59K

c.175G>A

1 paper

NM_024757.5

p.A50E

c.149C>A

1 paper

NM_024757.5

p.A50V

c.149C>T

2 papers

NM_024757.5

p.A50T

c.148G>A

1 paper

NM_024757.5

p.A49G

c.146C>G