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.S2364T

c.7091G>C

Surrounding Variants

1 paper

NM_003482.4

p.H2365fs

c.7093_7094fs

1 paper

NM_003482.4

p.P2366S

c.7096C>T

1 paper

NM_003482.4

p.P2366fs

c.7096_7097fs

1 paper

NM_003482.4

p.P2366delFs

c.7097delG

1 paper

NM_003482.4

p.S2361delFs

c.7081delA

1 paper

NM_003482.4

p.P2353_P2360delFs

c.7058_7079del22

1 paper

NM_003482.4

p.P2360A

c.7078C>G

1 paper

NM_003482.4

p.L2358delFs

c.7073delA

3 papers

NM_003482.4

p.R2370C

c.7108C>T

5 papers

NM_003482.4

p.R2370H

c.7109G>A

1 paper

NM_003482.4

p.P2371L

c.7112C>T

1 paper

NM_003482.4

p.G2372fs

c.7114_7115fs