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.E14_A16del3

c.40_47del9

Surrounding Variants

1 paper

NM_003482.4

p.A17Splc

c.49+2T>C

1 paper

NM_003482.4

p.A17Splc

c.49+2T>A

1 paper

NM_003482.4

p.A16A

c.48A>T

1 paper

NM_003482.4

p.A16A

c.48A>C

2 papers

NM_003482.4

p.P15L

c.44C>T

1 paper

NM_003482.4

p.P15_A16insCC

c.43_47ins6

1 paper

NM_003482.4

p.E14K

c.40G>A

1 paper

NM_003482.4

p.K11_D12delFs

c.31_34del4

1 paper

NM_003482.4

p.K11insFs

c.31dupA

1 paper

NM_003482.4

p.D12H

c.34G>C

1 paper

NM_003482.4

p.D12N

c.34G>A

1 paper

NM_003482.4

p.K11E

c.31A>G