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.P2218T

c.6652C>A

Surrounding Variants

1 paper

NM_003482.4

p.P2218S

c.6652C>T

1 paper

NM_003482.4

p.R2217fs

c.6649_6650fs

1 paper

NM_003482.4

p.S2216delFs

c.6648delA

1 paper

NM_003482.4

p.G2219ins4

c.6656_6657ins12

1 paper

NM_003482.4

p.S2215S

c.6645A>G

9 papers

NM_003482.4

p.S2215T

c.6643T>A

4 papers

NM_003482.4

p.G2213_A2214delFs

c.6638_6641del4

2 papers

NM_003482.4

p.A2214T

c.6640G>A

2 papers

NM_003482.4

p.Q2222*

c.6664C>T

2 papers

NM_003482.4

p.G2213D

c.6638G>A

1 paper

NM_003482.4

p.G2213fs

c.6637_6638fs

1 paper

NM_003482.4

p.S2216_Q2222del7

c.6646_6665del21