Varaico: Literature-Extracted Genetic Variants

KMT2D

2,563 papers

RefSeq Summary

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been sh...

Pfam Domains

zf-HC5HC2Haa 139–218UCSCPHD-like zinc-binding domain

PHDaa 229–273UCSCPHD-finger

PHDaa 276–320UCSCPHD-finger

PHDaa 1380–1427UCSCPHD-finger

PHDaa 1430–1474UCSCPHD-finger

zf-HC5HC2H_2aa 5030–5144UCSCPHD-zinc-finger like domain

Gene Aliases

HGNC Name

lysine methyltransferase 2D

HGNC Previous Symbols

TNRC21; MLL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003482.4

p.G4182insFs

c.12546dupG

Surrounding Variants

2 papers

NM_003482.4

p.Q4183*

c.12547C>T

2 papers

NM_003482.4

p.G4182V

c.12545G>T

1 paper

NM_003482.4

p.Q4183H

c.12549G>T

1 paper

NM_003482.4

p.Q4183fs

c.12547_12548fs

1 paper

NM_003482.4

p.Q4183H

c.12549G>C

1 paper

NM_003482.4

p.Q4180fs

c.12538_12539fs

3 papers

NM_003482.4

p.Q4180*

c.12538C>T

1 paper

NM_003482.4

p.P4186L

c.12557C>T

1 paper

NM_003482.4

p.L4179F

c.12535C>T

1 paper

NM_003482.4

p.G4187V

c.12560G>T

1 paper

NM_003482.4

p.G4187E

c.12560G>A

2 papers

NM_003482.4

p.G4189*

c.12565G>T