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.P2763L

c.8288C>T

Surrounding Variants

1 paper

NM_003482.4

p.G2764E

c.8291G>A

1 paper

NM_003482.4

p.G2762R

c.8284G>C

1 paper

NM_003482.4

p.G2762R

c.8284G>A

1 paper

NM_003482.4

p.P2752_G2764del13

c.8254_8291del39

1 paper

NM_003482.4

p.S2765fs

c.8293_8294fs

1 paper

NM_003482.4

p.I2760delFs

c.8280delG

1 paper

NM_003482.4

p.S2765F

c.8294C>T

1 paper

NM_003482.4

p.L2761M

c.8281C>A

1 paper

NM_003482.4

p.I2760L

c.8278A>C

1 paper

NM_003482.4

p.G2758_P2759insFs

c.8274_8275insCT

4 papers

NM_003482.4

p.G2758delFs

c.8273delC

2 papers

NM_003482.4

p.S2768fs

c.8302_8303fs