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.R1230C

c.3688C>T

Surrounding Variants

1 paper

NM_024757.5

p.R1230H

c.3689G>A

1 paper

NM_024757.5

p.I1232_G1239ins2

c.3695_3715dup21

1 paper

NM_024757.5

p.F1227F

c.3681C>T

1 paper

NM_024757.5

p.G1235delFs

c.3703_3704delGG

1 paper

NM_024757.5

p.G1235fs

c.3703_3704fs

1 paper

NM_024757.5

p.I1224L

c.3670A>C

1 paper

NM_024757.5

p.R1223Q

c.3668G>A

1 paper

NM_024757.5

p.Q1237E

c.3709C>G

1 paper

NM_024757.5

p.R1223W

c.3667C>T

2 papers

NM_024757.5

p.G1239R

c.3715G>A

2 papers

NM_024757.5

p.G1239R

c.3715G>C

1 paper

NM_024757.5

p.R1220Q

c.3659G>A