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

2 papers

NM_003482.4

p.Y2907*

c.8721C>A

Surrounding Variants

3 papers

NM_003482.4

p.Y2907*

c.8721C>G

4 papers

NM_003482.4

p.Y2907fs

c.8719_8720fs

2 papers

NM_003482.4

p.Y2907insFs

c.8719dupT

1 paper

NM_003482.4

p.R2905_F2906del2

c.8713_8717del6

1 paper

NM_003482.4

p.Y2907fs

c.8719_8720fs

1 paper

NM_003482.4

p.R2905Fs

c.8713_8715delinsGFs

1 paper

NM_003482.4

p.V2909V

c.8727A>G

2 papers

NM_003482.4

p.V2909fs

c.8725_8726fs

2 papers

NM_003482.4

p.S2910fs

c.8728_8729fs

1 paper

NM_003482.4

p.R2905H

c.8714G>A

1 paper

NM_003482.4

p.S2910R

c.8728A>C

1 paper

NM_003482.4

p.S2910I

c.8729G>T