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.L2484P

c.7451T>C

Surrounding Variants

1 paper

NM_003482.4

p.G2482insFs

c.7446dupG

1 paper

NM_003482.4

p.T2487A

c.7459A>G

1 paper

NM_003482.4

p.T2487_S2488ins5

c.7459_7463ins15

1 paper

NM_003482.4

p.T2487I

c.7460C>T

1 paper

NM_003482.4

p.S2488fs

c.7462_7463fs

2 papers

NM_003482.4

p.S2488L

c.7463C>T

1 paper

NM_003482.4

p.S2488*

c.7463C>A

1 paper

NM_003482.4

p.L2489P

c.7466T>C

1 paper

NM_003482.4

p.S2488_L2489delFs

c.7463_7466del4

1 paper

NM_003482.4

p.A2478A

c.7434C>T

1 paper

NM_003482.4

p.A2491fs

c.7471_7472fs

1 paper

NM_003482.4

p.A2491S

c.7471G>T