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.R1125S

c.3375G>C

Surrounding Variants

2 papers

NM_024757.5

p.R1125S

c.3375G>T

1 paper

NM_024757.5

p.V1120I

c.3358G>A

1 paper

NM_024757.5

p.V1119A

c.3356T>C

1 paper

NM_024757.5

p.V1119I

c.3355G>A

1 paper

NM_024757.5

p.R1118G

c.3352C>G

2 papers

NM_024757.5

p.R1118C

c.3352C>T

1 paper

NM_024757.5

p.C1115G

c.3343T>G

1 paper

NM_024757.5

p.R1113S

c.3339G>C

1 paper

NM_024757.5

p.R1113S

c.3339G>T

1 paper

NM_024757.5

p.C1111W

c.3333C>G

1 paper

NM_024757.5

p.C1111S

c.3332G>C

1 paper

NM_024757.5

p.C1111S

c.3331T>A