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.L3094fs

c.9280_9281fs

Surrounding Variants

1 paper

NM_003482.4

p.L3094*

c.9281T>A

1 paper

NM_003482.4

p.G3095D

c.9284G>A

1 paper

NM_003482.4

p.P3093_L3094insFs

c.9279_9280insG

1 paper

NM_003482.4

p.G3095fs

c.9283_9284fs

1 paper

NM_003482.4

p.P3096L

c.9287C>T

1 paper

NM_003482.4

p.P3093S

c.9277C>T

1 paper

NM_003482.4

p.G3092delFs

c.9274delC

3 papers

NM_003482.4

p.E3097*

c.9289G>T

1 paper

NM_003482.4

p.E3097K

c.9289G>A

1 paper

NM_003482.4

p.P3091insFs

c.9272dupC

2 papers

NM_003482.4

p.P3091fs

c.9271_9272fs

1 paper

NM_003482.4

p.E3098*

c.9292G>T