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.G4122*

c.12364G>T

Surrounding Variants

1 paper

NM_003482.4

p.G4122R

c.12364G>C

1 paper

NM_003482.4

p.G4122R

c.12364G>A

2 papers

NM_003482.4

p.S4123L

c.12368C>T

1 paper

NM_003482.4

p.G4120D

c.12359G>A

1 paper

NM_003482.4

p.S4124fs

c.12370_12371fs

1 paper

NM_003482.4

p.S4124S

c.12372T>C

1 paper

NM_003482.4

p.S4123_S4124insFs

c.12368_12372dup5

1 paper

NM_003482.4

p.S4125fs

c.12373_12374fs

1 paper

NM_003482.4

p.L4119I

c.12355C>A

1 paper

NM_003482.4

p.S4125F

c.12374C>T

1 paper

NM_003482.4

p.E4126Q

c.12376G>C

4 papers

NM_003482.4

p.Q4118*

c.12352C>T