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

36 papers

NM_003482.4

p.R5179H

c.15536G>A

Surrounding Variants

4 papers

NM_003482.4

p.R5179L

c.15536G>T

1 paper

NM_003482.4

p.R5179P

c.15536G>C

21 papers

NM_003482.4

p.R5179C

c.15535C>T

1 paper

NM_003482.4

p.R5179S

c.15535C>A

4 papers

NM_003482.4

p.V5180G

c.15539T>G

2 papers

NM_003482.4

p.F5178Y

c.15533T>A

1 paper

NM_003482.4

p.V5180V

c.15540G>C

1 paper

NM_003482.4

p.G5181W

c.15541G>T

1 paper

NM_003482.4

p.G5181R

c.15541G>C

1 paper

NM_003482.4

p.G5181R

c.15541G>A

1 paper

NM_003482.4

p.G5181V

c.15542G>T

1 paper

NM_003482.4

p.G5181E

c.15542G>A