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.G5181V

c.15542G>T

Surrounding Variants

1 paper

NM_003482.4

p.G5181E

c.15542G>A

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

2 papers

NM_003482.4

p.G5182R

c.15544G>C

1 paper

NM_003482.4

p.V5180V

c.15540G>C

3 papers

NM_003482.4

p.G5182fs

c.15544_15545fs

4 papers

NM_003482.4

p.V5180G

c.15539T>G

1 paper

NM_003482.4

p.G5182V

c.15545G>T

5 papers

NM_003482.4

p.G5182insFs

c.15545dupG

7 papers

NM_003482.4

p.G5182fs

c.15544_15545fs

3 papers

NM_003482.4

p.G5182delFs

c.15545delC