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.V4301I

c.12901G>A

Surrounding Variants

1 paper

NM_003482.4

p.P4292_P4300del9

c.12874_12899del27

1 paper

NM_003482.4

p.V4301insFs

c.12902_12903insA

1 paper

NM_003482.4

p.V4301_L4302insFs

c.12903_12904ins10

1 paper

NM_003482.4

p.L4302F

c.12904C>T

1 paper

NM_003482.4

p.L4302I

c.12904C>A

2 papers

NM_003482.4

p.G4299fs

c.12895_12896fs

1 paper

NM_003482.4

p.G4299delFs

c.12896delC

3 papers

NM_003482.4

p.L4302fs

c.12904_12905fs

1 paper

NM_003482.4

p.G4299E

c.12896G>A

1 paper

NM_003482.4

p.S4297_G4299delFs

c.12891_12895del5

1 paper

NM_003482.4

p.G4299*

c.12895G>T

1 paper

NM_003482.4

p.G4303S

c.12907G>A