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.L4450insFs

c.13349_13350insGA

Surrounding Variants

1 paper

NM_003482.4

p.L4449fs

c.13345_13346fs

1 paper

NM_003482.4

p.L4449delFs

c.13346delA

1 paper

NM_003482.4

p.L4451fs

c.13351_13352fs

1 paper

NM_003482.4

p.A4452T

c.13354G>A

1 paper

NM_003482.4

p.A4452G

c.13355C>G

1 paper

NM_003482.4

p.G4453C

c.13357G>T

2 papers

NM_003482.4

p.N4447fs

c.13339_13340fs

1 paper

NM_003482.4

p.S4446fs

c.13336_13337fs

2 papers

NM_003482.4

p.P4454fs

c.13360_13361fs

2 papers

NM_003482.4

p.P4454delFs

c.13361delG

2 papers

NM_003482.4

p.R4455C

c.13363C>T

2 papers

NM_003482.4

p.R4455fs

c.13363_13364fs