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.E311_E312del2

c.931_935del6

Surrounding Variants

1 paper

NM_006709.5

p.E314*

c.940G>T

1 paper

NM_006709.5

p.E316_E317del1

c.948_950delTCC

2 papers

NM_006709.5

p.E311_E312delins

c.933_936delinsG

1 paper

NM_006709.5

p.E316_E317del2

c.946_950del6

1 paper

NM_006709.5

p.E304_E305del2

c.910_914del6

1 paper

NM_006709.5

p.E323del1

c.967_968delTTC

1 paper

NM_006709.5

p.E305del1

c.913_914delTTC

1 paper

NM_006709.5

p.E304_E305del1

c.912_914delTCC

1 paper

NM_006709.5

p.Q330R

c.989A>G

1 paper

NM_006709.5

p.G335R

c.1003G>C

1 paper

NM_006709.5

p.S356F

c.1067C>T

2 papers

NM_006709.5

p.R359Q

c.1076G>A