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

2 papers

NM_003482.4

p.P4281fs

c.12841_12842fs

Surrounding Variants

1 paper

NM_003482.4

p.G4280A

c.12839G>C

1 paper

NM_003482.4

p.G4280fs

c.12838_12839fs

24 papers

NM_003482.4

p.R4282*

c.12844C>T

2 papers

NM_003482.4

p.R4282Q

c.12845G>A

1 paper

NM_003482.4

p.A4279delFs

c.12835delC

2 papers

NM_003482.4

p.A4279fs

c.12835_12836fs

1 paper

NM_003482.4

p.G4278fs

c.12832_12833fs

3 papers

NM_003482.4

p.P4283L

c.12848C>T

1 paper

NM_003482.4

p.A4279_P4283delFs

c.12835_12848del14

1 paper

NM_003482.4

p.L4277delFs

c.12831delT

6 papers

NM_003482.4

p.Q4284*

c.12850C>T

1 paper

NM_003482.4

p.L4277fs

c.12829_12830fs