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.L3920ins1

c.11758_11759insAGC

Surrounding Variants

2 papers

NM_003482.4

p.L3920Q

c.11759T>A

7 papers

NM_003482.4

p.Q3919_L3920del1

c.11756_11758delGCT

1 paper

NM_003482.4

p.Q3918_L3920del0

c.11753_11758del6

3 papers

NM_003482.4

p.Q3917_L3920del0

c.11750_11758del9

1 paper

NM_003482.4

p.Q3919fs

c.11755_11756fs

2 papers

NM_003482.4

p.Q3919*

c.11755C>T

1 paper

NM_003482.4

p.Q3921*

c.11761C>T

1 paper

NM_003482.4

p.Q3918H

c.11754G>T

1 paper

NM_003482.4

p.Q3918H

c.11754G>C

1 paper

NM_003482.4

p.L3906_Q3918del0

c.11717_11752del36

3 papers

NM_003482.4

p.Q3919_L3920del2

c.11755_11759del6

4 papers

NM_003482.4

p.Q3922*

c.11764C>T