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

2 papers

NM_024757.5

p.E1098D

c.3294G>T

Surrounding Variants

2 papers

NM_024757.5

p.E1098D

c.3294G>C

3 papers

NM_024757.5

p.P1099A

c.3295C>G

1 paper

NM_024757.5

p.P1099L

c.3296C>T

1 paper

NM_024757.5

p.N1095S

c.3284A>G

1 paper

NM_024757.5

p.I1102V

c.3304A>G

1 paper

NM_024757.5

p.I1102T

c.3305T>C

7 papers

NM_024757.5

p.E1104K

c.3310G>A

1 paper

NM_024757.5

p.E1104*

c.3310G>T

1 paper

NM_024757.5

p.P1092L

c.3275C>T

2 papers

NM_024757.5

p.C1105_N1106insFs

c.3315_3316insA

1 paper

NM_024757.5

p.N1106D

c.3316A>G

2 papers

NM_024757.5

p.N1106fs

c.3316_3317fs