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.K1180_D1181Splc

c.3540+2T>C

Surrounding Variants

2 papers

NM_024757.5

p.K1180_D1181Splc

c.3540+1G>C

1 paper

NM_024757.5

p.D1178N

c.3532G>A

1 paper

NM_024757.5

p.L1177F

c.3529C>T

1 paper

NM_024757.5

p.D1176Y

c.3526G>T

1 paper

NM_024757.5

p.D1176delFs

c.3526delG

1 paper

NM_024757.5

p.F1175fs

c.3523_3524fs

1 paper

NM_024757.5

p.L1174insFs

c.3521dupT

1 paper

NM_024757.5

p.L1174fs

c.3520_3521fs

1 paper

NM_024757.5

p.L1174delFs

c.3520delC

5 papers

NM_024757.5

p.R1168*

c.3502C>T

1 paper

NM_024757.5

p.D1166E

c.3498C>A

1 paper

NM_024757.5

p.D1166E

c.3498C>G