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.T853fs

c.2557_2558fs

Surrounding Variants

1 paper

NM_006709.5

p.L855delFs

c.2563delG

1 paper

NM_006709.5

p.L855delins

c.2563_2564delinsTC

2 papers

NM_006709.5

p.L855fs

c.2563_2564fs

1 paper

NM_006709.5

p.L855delFs

c.2564delA

1 paper

NM_006709.5

p.A858T

c.2572G>A

1 paper

NM_006709.5

p.R873C

c.2617C>T

1 paper

NM_006709.5

p.E883Q

c.2647G>C

1 paper

NM_006709.5

p.G884V

c.2651G>T

1 paper

NM_006709.5

p.L890L

c.2668C>T

1 paper

NM_006709.5

p.P892L

c.2675C>T

1 paper

NM_006709.5

p.G808G

c.2424C>T

1 paper

NM_006709.5

p.R908L

c.2723G>T