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.A2491S

c.7471G>T

Surrounding Variants

1 paper

NM_003482.4

p.A2491fs

c.7471_7472fs

1 paper

NM_003482.4

p.A2491delFs

c.7471delC

1 paper

NM_003482.4

p.G2492W

c.7474G>T

1 paper

NM_003482.4

p.G2492_G2493insC

c.7474_7478ins3

1 paper

NM_003482.4

p.S2488_L2489delFs

c.7463_7466del4

1 paper

NM_003482.4

p.L2489P

c.7466T>C

1 paper

NM_003482.4

p.G2493R

c.7477G>C

1 paper

NM_003482.4

p.G2493R

c.7477G>A

1 paper

NM_003482.4

p.G2493fs

c.7477_7478fs

2 papers

NM_003482.4

p.G2493V

c.7478G>T

9 papers

NM_003482.4

p.G2493E

c.7478G>A

9 papers

NM_003482.4

p.G2493G

c.7479G>T