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.C5226fs

c.15676_15677fs

Surrounding Variants

1 paper

NM_003482.4

p.R5225L

c.15674G>T

2 papers

NM_003482.4

p.R5225H

c.15674G>A

14 papers

NM_003482.4

p.R5225C

c.15673C>T

1 paper

NM_003482.4

p.R5224insFs

c.15671_15672insGG

1 paper

NM_003482.4

p.R5224fs

c.15670_15671fs

12 papers

NM_003482.4

p.R5224H

c.15671G>A

2 papers

NM_003482.4

p.C5227*

c.15681C>A

1 paper

NM_003482.4

p.C5227del1

c.15679_15680delGCA

2 papers

NM_003482.4

p.N5223S

c.15668A>G

1 paper

NM_003482.4

p.N5223Y

c.15667A>T

1 paper

NM_003482.4

p.N5223H

c.15667A>C

1 paper

NM_003482.4

p.R5229L

c.15686G>T