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

2 papers

NM_003482.4

p.L2942F

c.8826G>C

Surrounding Variants

2 papers

NM_003482.4

p.L2942F

c.8826G>T

1 paper

NM_003482.4

p.L2942delFs

c.8826delC

1 paper

NM_003482.4

p.N2943fs

c.8827_8828fs

2 papers

NM_003482.4

p.N2944S

c.8831A>G

1 paper

NM_003482.4

p.N2944fs

c.8830_8831fs

1 paper

NM_003482.4

p.S2945G

c.8833A>G

1 paper

NM_003482.4

p.S2945N

c.8834G>A

1 paper

NM_003482.4

p.N2944_S2945delFs

c.8832_8833delTG

1 paper

NM_003482.4

p.A2939S

c.8815G>T

1 paper

NM_003482.4

p.A2939P

c.8815G>C

1 paper

NM_003482.4

p.H2947fs

c.8839_8840fs

6 papers

NM_003482.4

p.P2938L

c.8813C>T