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.R2903I

c.8708G>T

Surrounding Variants

1 paper

NM_003482.4

p.R2903K

c.8708G>A

1 paper

NM_003482.4

p.R2903fs

c.8707_8708fs

1 paper

NM_003482.4

p.R2903insFs

c.8709dupA

1 paper

NM_003482.4

p.P2904fs

c.8710_8711fs

6 papers

NM_003482.4

p.Q2902*

c.8704C>T

1 paper

NM_003482.4

p.R2905C

c.8713C>T

1 paper

NM_003482.4

p.R2905H

c.8714G>A

1 paper

NM_003482.4

p.R2905Fs

c.8713_8715delinsGFs

1 paper

NM_003482.4

p.R2905_F2906del2

c.8713_8717del6

2 papers

NM_003482.4

p.G2899fs

c.8695_8696fs

1 paper

NM_003482.4

p.G2899delFs

c.8696delC

1 paper

NM_003482.4

p.Y2907fs

c.8719_8720fs