Varaico: Literature-Extracted Genetic Variants

EHMT2

276 papers

RefSeq Summary

This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repres...

Pfam Domains

EHMT1-2_CRRaa 446–539UCSCHistone-lysine N-methyltransferase EHMT1/EHMT2, Cys-rich region

Ankaa 684–716UCSCAnkyrin repeat

Ank_2aa 711–805UCSCAnkyrin repeats (3 copies)

Ankaa 717–748UCSCAnkyrin repeat

Ankaa 750–783UCSCAnkyrin repeat

Ankaa 784–816UCSCAnkyrin repeat

Gene Aliases

HGNC Name

euchromatic histone lysine methyltransferase 2

HGNC Previous Symbols

C6orf30; BAT8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006709.5

p.R487H

c.1460G>A

Surrounding Variants

2 papers

NM_006709.5

p.R474C

c.1420C>T

1 paper

NM_006709.5

p.A503V

c.1508C>T

1 paper

NM_006709.5

p.R441K

c.1322G>A

1 paper

NM_006709.5

p.I435I

c.1305T>C

1 paper

NM_006709.5

p.E422A

c.1265A>C

1 paper

NM_006709.5

p.E421K

c.1261G>A

1 paper

NM_006709.5

p.T560N

c.1679C>A

1 paper

NM_006709.5

p.S569A

c.1705T>G

1 paper

NM_006709.5

p.S579del1

c.1735_1736delAGA

1 paper

NM_006709.5

p.R592R

c.1776G>T

1 paper

NM_006709.5

p.D601N

c.1801G>A

1 paper

NM_006709.5

p.S605N

c.1814G>A