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.P4155L

c.12464C>T

Surrounding Variants

2 papers

NM_003482.4

p.P4155T

c.12463C>A

2 papers

NM_003482.4

p.Q4156*

c.12466C>T

1 paper

NM_003482.4

p.Q4156fs

c.12466_12467fs

1 paper

NM_003482.4

p.G4154D

c.12461G>A

5 papers

NM_003482.4

p.Q4157*

c.12469C>T

1 paper

NM_003482.4

p.S4147_L4152del6

c.12439_12455del18

2 papers

NM_003482.4

p.M4148_L4152delFs

c.12442_12455del14

1 paper

NM_003482.4

p.L4152_Q4157del0

c.12454_12471del18

1 paper

NM_003482.4

p.L4152F

c.12454C>T

1 paper

NM_003482.4

p.M4159fs

c.12475_12476fs

3 papers

NM_003482.4

p.Q4150*

c.12448C>T

1 paper

NM_003482.4

p.E4161*

c.12481G>T