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.L88_N94del7

c.262_281del21

Surrounding Variants

1 paper

NM_024757.5

p.N86H

c.256A>C

1 paper

NM_024757.5

p.R90Q

c.269G>A

1 paper

NM_024757.5

p.G84G

c.252C>G

1 paper

NM_024757.5

p.I91L

c.271A>C

1 paper

NM_024757.5

p.I91L

c.271A>T

1 paper

NM_024757.5

p.G84D

c.251G>A

2 papers

NM_024757.5

p.I91T

c.272T>C

1 paper

NM_024757.5

p.A92E

c.275C>A

1 paper

NM_024757.5

p.D83fs

c.247_248fs

2 papers

NM_024757.5

p.A92A

c.276G>T

1 paper

NM_024757.5

p.D83delFs

c.247delG

1 paper

NM_024757.5

p.Q82fs

c.244_245fs