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

1–12 of 142 variants

125 papers

NM_006709.5

p.A3A

c.9G>A

4 papers

NM_006709.5

p.S58F

c.173C>T

2 papers

NM_006709.5

p.A19P

c.55G>C

2 papers

NM_006709.5

p.T55N

c.164C>A

2 papers

NM_006709.5

p.E311_E312delins

c.933_936delinsG

2 papers

NM_006709.5

p.R359Q

c.1076G>A

2 papers

NM_006709.5

p.R474C

c.1420C>T

2 papers

NM_006709.5

p.L855fs

c.2563_2564fs

1 paper

NM_006709.5

p.A2T

c.4G>A

1 paper

NM_006709.5

p.A3T

c.7G>A

1 paper

NM_006709.5

p.A3A

c.9G>T

1 paper

NM_006709.5

p.A5insFs

c.13_14insC