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.F120S

c.359T>C

Surrounding Variants

1 paper

NM_003482.4

p.F120I

c.358T>A

1 paper

NM_003482.4

p.F120F

c.360C>T

1 paper

NM_003482.4

p.G119_F120del2

c.355_359del6

1 paper

NM_003482.4

p.Q117_F120del4

c.349_359del12

2 papers

NM_003482.4

p.P121fs

c.361_362fs

2 papers

NM_003482.4

p.P121delFs

c.362delG

1 paper

NM_003482.4

p.I118delFs

c.353delA

1 paper

NM_003482.4

p.I118fs

c.352_353fs

1 paper

NM_003482.4

p.P121insFs

c.363dupT

1 paper

NM_003482.4

p.E122K

c.364G>A

1 paper

NM_003482.4

p.P121delFs

c.363delA

1 paper

NM_003482.4

p.E122G

c.365A>G