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.Q3993_Q3994del1

c.11979_11981delTGC

Surrounding Variants

1 paper

NM_003482.4

p.V3995L

c.11983G>T

1 paper

NM_003482.4

p.V3995L

c.11983G>C

1 paper

NM_003482.4

p.Q3994del1

c.11980_11981delTTG

1 paper

NM_003482.4

p.Q3994*

c.11980C>T

1 paper

NM_003482.4

p.V3995fs

c.11983_11984fs

3 papers

NM_003482.4

p.Q3993*

c.11977C>T

1 paper

NM_003482.4

p.Q3993E

c.11977C>G

1 paper

NM_003482.4

p.Q3991delFs

c.11973delC

1 paper

NM_003482.4

p.Q3991*

c.11971C>T

3 papers

NM_003482.4

p.Q3990*

c.11968C>T

1 paper

NM_003482.4

p.P3999fs

c.11995_11996fs

1 paper

NM_003482.4

p.Q3972_P3987del16

c.11914_11960del48