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.F5255L

c.15765C>A

Surrounding Variants

1 paper

NM_003482.4

p.T5256A

c.15766A>G

1 paper

NM_003482.4

p.V5254I

c.15760G>A

5 papers

NM_003482.4

p.D5257V

c.15770A>T

1 paper

NM_003482.4

p.A5258T

c.15772G>A

1 paper

NM_003482.4

p.S5259fs

c.15775_15776fs

1 paper

NM_003482.4

p.S5259F

c.15776C>T

1 paper

NM_003482.4

p.S5259insFs

c.15775_15776ins4

1 paper

NM_003482.4

p.S5259delFs

c.15776delG

1 paper

NM_003482.4

p.P5260S

c.15778C>T

1 paper

NM_003482.4

p.S5259_P5260insFs

c.15777_15778insT

1 paper

NM_003482.4

p.P5260T

c.15778C>A

1 paper

NM_003482.4

p.D5257_S5259del3

c.15769_15776del9