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.Q3744_A3752del9

c.11230_11255del27

Surrounding Variants

3 papers

NM_003482.4

p.Q3754*

c.11260C>T

1 paper

NM_003482.4

p.V3751L

c.11251G>T

1 paper

NM_003482.4

p.V3751L

c.11251G>C

7 papers

NM_003482.4

p.Q3755*

c.11263C>T

1 paper

NM_003482.4

p.Q3755Q

c.11265G>A

1 paper

NM_003482.4

p.Q3750R

c.11249A>G

2 papers

NM_003482.4

p.Q3756*

c.11266C>T

1 paper

NM_003482.4

p.Q3750*

c.11248C>T

5 papers

NM_003482.4

p.Q3757*

c.11269C>T

1 paper

NM_003482.4

p.Q3738_L3747del10

c.11212_11240del30

1 paper

NM_003482.4

p.Q3757H

c.11271G>T

1 paper

NM_003482.4

p.Q3757H

c.11271G>C