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

1–12 of 768 variants

11 papers

NM_024757.5

p.N904_E905Splc

c.2712+1G>A

8 papers

NM_024757.5

p.R1197W

c.3589C>T

7 papers

NM_024757.5

p.E1104K

c.3310G>A

6 papers

NM_024757.5

p.E354Q

c.1060G>C

6 papers

NM_024757.5

p.P809L

c.2426C>T

6 papers

NM_024757.5

p.C1073Y

c.3218G>A

5 papers

NM_024757.5

p.A275T

c.823G>A

5 papers

NM_024757.5

p.R1168*

c.3502C>T

4 papers

NM_024757.5

p.D35N

c.103G>A

4 papers

NM_024757.5

p.R246*

c.736C>T

4 papers

NM_024757.5

p.G551D

c.1652G>A

4 papers

NM_024757.5

p.R620*

c.1858C>T