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.G4265fs

c.12793_12794fs

Surrounding Variants

1 paper

NM_003482.4

p.G4265fs

c.12793_12794fs

1 paper

NM_003482.4

p.P4267fs

c.12799_12800fs

1 paper

NM_003482.4

p.P4267delFs

c.12800delG

1 paper

NM_003482.4

p.P4269fs

c.12805_12806fs

1 paper

NM_003482.4

p.P4269L

c.12806C>T

1 paper

NM_003482.4

p.Q4262*

c.12784C>T

1 paper

NM_003482.4

p.Q4262E

c.12784C>G

1 paper

NM_003482.4

p.P4269fs

c.12805_12806fs

1 paper

NM_003482.4

p.P4269delFs

c.12806delG

2 papers

NM_003482.4

p.Q4270*

c.12808C>T

1 paper

NM_003482.4

p.Q4270insFs

c.12809dupA

3 papers

NM_003482.4

p.T4271fs

c.12811_12812fs