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.A54A

c.162C>T

Surrounding Variants

2 papers

NM_006709.5

p.T55N

c.164C>A

1 paper

NM_006709.5

p.D57delFs

c.170_171delGT

4 papers

NM_006709.5

p.S58F

c.173C>T

1 paper

NM_006709.5

p.S58S

c.174C>T

1 paper

NM_006709.5

p.G42R

c.124G>C

1 paper

NM_006709.5

p.G42R

c.124G>A

1 paper

NM_006709.5

p.L41L

c.123G>A

1 paper

NM_006709.5

p.D76H

c.226G>C

1 paper

NM_006709.5

p.A85T

c.253G>A

1 paper

NM_006709.5

p.S93_E94insGG

c.277_281ins6

1 paper

NM_006709.5

p.D101N

c.301G>A

1 paper

NM_006709.5

p.L102delFs

c.304_305delAG