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.L102delFs

c.304_305delAG

Surrounding Variants

1 paper

NM_006709.5

p.G104G

c.312G>T

1 paper

NM_006709.5

p.D101N

c.301G>A

1 paper

NM_006709.5

p.G104delFs

c.311_312delCC

1 paper

NM_006709.5

p.R106delFs

c.316_317delCG

1 paper

NM_006709.5

p.G110Splc

c.328+2T>G

NM_001289413.2

p.G167Splc

c.499+2T>G

1 paper

NM_006709.5

p.S93_E94insGG

c.277_281ins6

1 paper

NM_006709.5

p.A85T

c.253G>A

1 paper

NM_006709.5

p.D76H

c.226G>C

1 paper

NM_006709.5

p.G110G

c.330C>T

1 paper

NM_006709.5

p.A112D

c.335C>A

1 paper

NM_001289413.2

p.T170_K171del2

c.508_512del6

1 paper

NM_006709.5

p.S115L

c.344C>T