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.L4015delFs

c.12044delA

Surrounding Variants

1 paper

NM_003482.4

p.L4015P

c.12044T>C

1 paper

NM_003482.4

p.G4016S

c.12046G>A

1 paper

NM_003482.4

p.L4015fs

c.12043_12044fs

2 papers

NM_003482.4

p.G4013_G4016delFs

c.12039_12046del8

1 paper

NM_003482.4

p.G4016fs

c.12046_12047fs

1 paper

NM_003482.4

p.A4014fs

c.12040_12041fs

1 paper

NM_003482.4

p.A4014V

c.12041C>T

1 paper

NM_003482.4

p.A4014S

c.12040G>T

1 paper

NM_003482.4

p.P4017L

c.12050C>T

1 paper

NM_003482.4

p.G4013G

c.12039A>G

1 paper

NM_003482.4

p.G4013*

c.12037G>T

1 paper

NM_003482.4

p.G4013ins1

c.12037_12038insAGT