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.K41*

c.121A>T

Surrounding Variants

1 paper

NM_024757.5

p.E40K

c.118G>A

1 paper

NM_024757.5

p.E40Q

c.118G>C

1 paper

NM_001354259.2

p.A12insFs

c.34_35insC

1 paper

NM_001354259.2

p.A8fs

c.22_23fs

1 paper

NM_024757.5

p.A43G

c.128C>G

1 paper

NM_024757.5

p.G44R

c.130G>A

1 paper

NM_024757.5

p.G44R

c.130G>C

1 paper

NM_024757.5

p.S38_A39insA

c.112_116ins3

1 paper

NM_024757.5

p.G44E

c.131G>A

1 paper

NM_024757.5

p.G44A

c.131G>C

1 paper

NM_001354259.2

p.G13insFs

c.38_39insA

1 paper

NM_001354259.2

p.E14insFs

c.40dupG