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.L4274insFs

c.12820dupC

Surrounding Variants

1 paper

NM_003482.4

p.L4274H

c.12821T>A

4 papers

NM_003482.4

p.Q4275*

c.12823C>T

1 paper

NM_003482.4

p.Q4270_G4272del3

c.12808_12815del9

1 paper

NM_003482.4

p.Q4275R

c.12824A>G

1 paper

NM_003482.4

p.G4272fs

c.12814_12815fs

5 papers

NM_003482.4

p.G4272D

c.12815G>A

4 papers

NM_003482.4

p.T4271_G4272delFs

c.12811_12814del4

1 paper

NM_003482.4

p.T4271delFs

c.12813delT

3 papers

NM_003482.4

p.T4271fs

c.12811_12812fs

1 paper

NM_003482.4

p.L4277fs

c.12829_12830fs

3 papers

NM_003482.4

p.T4271fs

c.12811_12812fs

1 paper

NM_003482.4

p.Q4270insFs

c.12809dupA