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.R3851fs

c.11551_11552fs

Surrounding Variants

1 paper

NM_003482.4

p.R3851_L3852delFs

c.11553_11554delGC

1 paper

NM_003482.4

p.G3849A

c.11546G>C

1 paper

NM_003482.4

p.V3853insFs

c.11557_11558ins11

1 paper

NM_003482.4

p.V3853fs

c.11557_11558fs

1 paper

NM_003482.4

p.G3849_V3853insFs

c.11547_11557dup11

1 paper

NM_003482.4

p.V3853A

c.11558T>C

2 papers

NM_003482.4

p.V3853fs

c.11557_11558fs

1 paper

NM_003482.4

p.A3855P

c.11563G>C

1 paper

NM_003482.4

p.L3847F

c.11539C>T

1 paper

NM_003482.4

p.V3834_G3846del13

c.11500_11537del39

1 paper

NM_003482.4

p.G3846S

c.11536G>A

1 paper

NM_003482.4

p.Q3856*

c.11566C>T