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.A77T

c.229G>A

Surrounding Variants

1 paper

NM_024757.5

p.D75H

c.223G>C

1 paper

NM_024757.5

p.N80I

c.239A>T

2 papers

NM_024757.5

p.Q82delFs

c.244delC

1 paper

NM_024757.5

p.N80K

c.240C>A

1 paper

NM_024757.5

p.P81A

c.241C>G

1 paper

NM_024757.5

p.P81L

c.242C>T

1 paper

NM_024757.5

p.Q82fs

c.244_245fs

1 paper

NM_024757.5

p.D83delFs

c.247delG

1 paper

NM_024757.5

p.D83fs

c.247_248fs

1 paper

NM_024757.5

p.A70T

c.208G>A

1 paper

NM_024757.5

p.G84D

c.251G>A

1 paper

NM_024757.5

p.G84G

c.252C>G