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.P4376L

c.13127C>T

Surrounding Variants

1 paper

NM_003482.4

p.P4376fs

c.13126_13127fs

1 paper

NM_003482.4

p.W4377fs

c.13129_13130fs

4 papers

NM_003482.4

p.W4377insFs

c.13129_13130insT

9 papers

NM_003482.4

p.W4377*

c.13130G>A

9 papers

NM_003482.4

p.W4377*

c.13131G>A

1 paper

NM_003482.4

p.G4375fs

c.13123_13124fs

1 paper

NM_003482.4

p.D4378E

c.13134T>G

1 paper

NM_003482.4

p.D4378E

c.13134T>A

1 paper

NM_003482.4

p.G4373delFs

c.13118delC

2 papers

NM_003482.4

p.G4373D

c.13118G>A

1 paper

NM_003482.4

p.G4373S

c.13117G>A

3 papers

NM_003482.4

p.P4380T

c.13138C>A