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.M5013fs

c.15037_15038fs

Surrounding Variants

1 paper

NM_003482.4

p.M5013insFs

c.15037_15038ins5

1 paper

NM_003482.4

p.F5012delFs

c.15035_15036delAA

1 paper

NM_003482.4

p.F5012C

c.15035T>G

1 paper

NM_003482.4

p.F5012V

c.15034T>G

1 paper

NM_003482.4

p.F5012fs

c.15034_15035fs

1 paper

NM_003482.4

p.E5014K

c.15040G>A

1 paper

NM_003482.4

p.E5011fs

c.15031_15032fs

2 papers

NM_003482.4

p.E5011delFs

c.15031delC

3 papers

NM_003482.4

p.A5010insFs

c.15030dupA

5 papers

NM_003482.4

p.E5011fs

c.15031_15032fs

1 paper

NM_003482.4

p.A5010fs

c.15028_15029fs

1 paper

NM_003482.4

p.G5017S

c.15049G>A