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.I4487delFs

c.13461delG

Surrounding Variants

1 paper

NM_003482.4

p.N4488fs

c.13462_13463fs

1 paper

NM_003482.4

p.I4487fs

c.13459_13460fs

1 paper

NM_003482.4

p.N4488S

c.13463A>G

1 paper

NM_003482.4

p.I4487T

c.13460T>C

3 papers

NM_003482.4

p.G4489R

c.13465G>C

3 papers

NM_003482.4

p.G4489R

c.13465G>A

1 paper

NM_003482.4

p.G4489E

c.13466G>A

2 papers

NM_003482.4

p.E4486G

c.13457A>G

1 paper

NM_003482.4

p.A4485delFs

c.13454delG

1 paper

NM_003482.4

p.A4485fs

c.13453_13454fs

5 papers

NM_003482.4

p.R4484Q

c.13451G>A

1 paper

NM_003482.4

p.D4492N

c.13474G>A