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.D2Y

c.4G>T

Surrounding Variants

1 paper

NM_003482.4

p.D2H

c.4G>C

1 paper

NM_003482.4

p.D2N

c.4G>A

1 paper

NM_003482.4

p.M1I

c.3G>T

1 paper

NM_003482.4

p.M1insFs

c.2dupT

1 paper

NM_003482.4

p.M1insFs

c.2_3ins5

1 paper

NM_003482.4

p.M1_D2insFs

c.3_4insA

1 paper

NM_003482.4

p.M1I

c.3G>C

4 papers

NM_003482.4

p.M1I

c.3G>A

2 papers

NM_003482.4

p.D2G

c.5A>G

2 papers

NM_003482.4

p.D2insFs

c.5_6ins4

1 paper

NM_003482.4

p.M1delFs

c.3delC

1 paper

NM_003482.4

p.M1ins3

c.2_3ins9