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.R376K

c.1127G>A

Surrounding Variants

1 paper

NM_024757.5

p.R376M

c.1127G>T

1 paper

NM_024757.5

p.R376W

c.1126A>T

1 paper

NM_024757.5

p.S378delFs

c.1134delC

1 paper

NM_024757.5

p.D374N

c.1120G>A

1 paper

NM_024757.5

p.K379fs

c.1135_1136fs

1 paper

NM_024757.5

p.T372R

c.1115C>G

1 paper

NM_024757.5

p.S381T

c.1142G>C

1 paper

NM_024757.5

p.P371A

c.1111C>G

1 paper

NM_024757.5

p.F370C

c.1109T>G

2 papers

NM_024757.5

p.A368T

c.1102G>A

1 paper

NM_024757.5

p.A368P

c.1102G>C

1 paper

NM_024757.5

p.R387C

c.1159C>T