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.G4142_D4143del2

c.12424_12428del6

Surrounding Variants

2 papers

NM_003482.4

p.Q4144*

c.12430C>T

1 paper

NM_003482.4

p.P4145_G4146insT

c.12433_12437ins3

1 paper

NM_003482.4

p.G4142fs

c.12424_12425fs

1 paper

NM_003482.4

p.S4140F

c.12419C>T

1 paper

NM_003482.4

p.M4148fs

c.12442_12443fs

1 paper

NM_003482.4

p.S4140fs

c.12418_12419fs

1 paper

NM_003482.4

p.S4147delFs

c.12441delG

3 papers

NM_003482.4

p.V4139fs

c.12415_12416fs

1 paper

NM_003482.4

p.V4139delFs

c.12415_12416delAC

1 paper

NM_003482.4

p.M4148I

c.12444G>T

1 paper

NM_003482.4

p.M4148fs

c.12442_12443fs

1 paper

NM_003482.4

p.M4148I

c.12444G>C