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

6 papers

NM_024757.5

p.E354Q

c.1060G>C

Surrounding Variants

2 papers

NM_024757.5

p.D351delFs

c.1051delG

1 paper

NM_024757.5

p.E350K

c.1048G>A

1 paper

NM_024757.5

p.D349N

c.1045G>A

1 paper

NM_024757.5

p.S348S

c.1044G>A

2 papers

NM_024757.5

p.S348L

c.1043C>T

1 paper

NM_001354259.2

p.M315I

c.945G>A

1 paper

NM_001354259.2

p.M315I

c.945G>C

1 paper

NM_001354259.2

p.M315I

c.945G>T

1 paper

NM_024757.5

p.H362delFs

c.1085delA

1 paper

NM_024757.5

p.H362fs

c.1084_1085fs

1 paper

NM_024757.5

p.G363C

c.1087G>T

1 paper

NM_024757.5

p.L344P

c.1031T>C