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.K2322insFs

c.6966dupG

Surrounding Variants

3 papers

NM_003482.4

p.T2323fs

c.6967_6968fs

1 paper

NM_003482.4

p.P2324S

c.6970C>T

1 paper

NM_003482.4

p.P2324_D2325insC

c.6970_6974ins3

1 paper

NM_003482.4

p.P2324_D2325ins8

c.6970_6974ins24

1 paper

NM_003482.4

p.P2324T

c.6970C>A

2 papers

NM_003482.4

p.P2324insFs

c.6971dupC

2 papers

NM_003482.4

p.L2321*

c.6962T>G

1 paper

NM_003482.4

p.P2324P

c.6972T>A

1 paper

NM_003482.4

p.L2321*

c.6962T>A

2 papers

NM_003482.4

p.D2325N

c.6973G>A

1 paper

NM_003482.4

p.T2323_P2324delFs

c.6968_6972del5

1 paper

NM_003482.4

p.L2319fs

c.6955_6956fs