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

3 papers

NM_003482.4

p.R4288fs

c.12862_12863fs

Surrounding Variants

3 papers

NM_003482.4

p.R4288W

c.12862C>T

4 papers

NM_003482.4

p.R4288Q

c.12863G>A

3 papers

NM_003482.4

p.R4288delFs

c.12862delG

1 paper

NM_003482.4

p.G4278_P4286delFs

c.12833_12857del25

1 paper

NM_003482.4

p.L4289L

c.12867C>T

1 paper

NM_003482.4

p.L4289fs

c.12865_12866fs

1 paper

NM_003482.4

p.P4290A

c.12868C>G

1 paper

NM_003482.4

p.R4288_P4290delFs

c.12863_12869del7

1 paper

NM_003482.4

p.Q4284fs

c.12850_12851fs

6 papers

NM_003482.4

p.Q4284*

c.12850C>T

1 paper

NM_003482.4

p.A4279_P4283delFs

c.12835_12848del14

3 papers

NM_003482.4

p.P4283L

c.12848C>T