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.V3016fs

c.9046_9047fs

Surrounding Variants

1 paper

NM_003482.4

p.V3016insFs

c.9046_9047insGG

1 paper

NM_003482.4

p.G3015fs

c.9043_9044fs

1 paper

NM_003482.4

p.V3016fs

c.9046_9047fs

1 paper

NM_003482.4

p.G3015D

c.9044G>A

1 paper

NM_003482.4

p.G3015S

c.9043G>A

1 paper

NM_003482.4

p.L3014delFs

c.9041_9042delCA

1 paper

NM_003482.4

p.L3014fs

c.9040_9041fs

1 paper

NM_003482.4

p.D3017G

c.9050A>G

1 paper

NM_003482.4

p.D3017ins2

c.9050_9051ins6

1 paper

NM_003482.4

p.D3017E

c.9051T>G

1 paper

NM_003482.4

p.D3017E

c.9051T>A

1 paper

NM_003482.4

p.A3019_K3020del2

c.9055_9059del6