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

2 papers

NM_003482.4

p.P2198insFs

c.6594dupC

Surrounding Variants

1 paper

NM_003482.4

p.Y2199D

c.6595T>G

2 papers

NM_003482.4

p.Y2199H

c.6595T>C

7 papers

NM_003482.4

p.P2198delFs

c.6594delG

23 papers

NM_003482.4

p.Y2199fs

c.6595_6596fs

1 paper

NM_003482.4

p.Y2199F

c.6596A>T

43 papers

NM_003482.4

p.Y2199delFs

c.6595delA

17 papers

NM_003482.4

p.Y2199fs

c.6595_6596fs

1 paper

NM_003482.4

p.P2198L

c.6593C>T

1 paper

NM_003482.4

p.P2198H

c.6593C>A

2 papers

NM_003482.4

p.P2200S

c.6598C>T

2 papers

NM_003482.4

p.P2197S

c.6589C>T

1 paper

NM_003482.4

p.Y2196ins3

c.6587_6588ins9