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

13 papers

NM_003482.4

p.P2382S

c.7144C>T

Surrounding Variants

1 paper

NM_003482.4

p.P2382fs

c.7144_7145fs

1 paper

NM_003482.4

p.P2381P

c.7143C>T

1 paper

NM_003482.4

p.P2382fs

c.7144_7145fs

2 papers

NM_003482.4

p.P2382delFs

c.7145delG

1 paper

NM_003482.4

p.P2382delFs

c.7144_7145delGG

3 papers

NM_003482.4

p.Q2380delFs

c.7140delC

1 paper

NM_003482.4

p.L2383*

c.7148T>A

1 paper

NM_003482.4

p.Q2380fs

c.7138_7139fs

5 papers

NM_003482.4

p.Q2380*

c.7138C>T

1 paper

NM_003482.4

p.T2384S

c.7150A>T

1 paper

NM_003482.4

p.T2384S

c.7151C>G

2 papers

NM_003482.4

p.A2379V

c.7136C>T