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.E4434K

c.13300G>A

Surrounding Variants

1 paper

NM_003482.4

p.E4434fs

c.13300_13301fs

1 paper

NM_003482.4

p.R4433fs

c.13297_13298fs

2 papers

NM_003482.4

p.R4433insFs

c.13297dupA

1 paper

NM_003482.4

p.R4433fs

c.13297_13298fs

1 paper

NM_003482.4

p.K4432N

c.13296G>T

1 paper

NM_003482.4

p.K4432fs

c.13294_13295fs

1 paper

NM_003482.4

p.K4432N

c.13296G>C

1 paper

NM_003482.4

p.V4431delFs

c.13293delC

1 paper

NM_003482.4

p.V4431A

c.13292T>C

1 paper

NM_003482.4

p.G4437V

c.13310G>T

1 paper

NM_003482.4

p.E4438*

c.13312G>T

1 paper

NM_003482.4

p.Q4429fs

c.13285_13286fs