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.P2545A

c.7633C>G

Surrounding Variants

1 paper

NM_003482.4

p.P2545L

c.7634C>T

1 paper

NM_003482.4

p.G2543_P2545delFs

c.7627_7633del7

2 papers

NM_003482.4

p.E2544*

c.7630G>T

1 paper

NM_003482.4

p.S2546Fs

c.7636delinsTAFs

1 paper

NM_003482.4

p.S2546delFs

c.7636delA

1 paper

NM_003482.4

p.G2543V

c.7628G>T

1 paper

NM_003482.4

p.G2543fs

c.7627_7628fs

4 papers

NM_003482.4

p.K2548E

c.7642A>G

1 paper

NM_003482.4

p.K2548fs

c.7642_7643fs

2 papers

NM_003482.4

p.K2548insFs

c.7643dupA

1 paper

NM_003482.4

p.P2549A

c.7645C>G

1 paper

NM_003482.4

p.Q2540fs

c.7618_7619fs