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

3 papers

NM_003482.4

p.P4055delFs

c.12164_12165delAG

Surrounding Variants

3 papers

NM_003482.4

p.P4055delFs

c.12165delA

2 papers

NM_003482.4

p.E4056fs

c.12166_12167fs

2 papers

NM_003482.4

p.P4055fs

c.12163_12164fs

1 paper

NM_003482.4

p.A4050_P4055delFs

c.12149_12164del16

1 paper

NM_003482.4

p.E4056fs

c.12166_12167fs

1 paper

NM_003482.4

p.P4055_E4056del2

c.12163_12167del6

1 paper

NM_003482.4

p.G4047_E4056delFs

c.12140_12168del29

1 paper

NM_003482.4

p.P4055fs

c.12163_12164fs

1 paper

NM_003482.4

p.T4054I

c.12161C>T

1 paper

NM_003482.4

p.M4058V

c.12172A>G

1 paper

NM_003482.4

p.T4054A

c.12160A>G

1 paper

NM_003482.4

p.T4053S

c.12158C>G