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

2 papers

NM_003482.4

p.K4494T

c.13481A>C

Surrounding Variants

1 paper

NM_003482.4

p.K4494*

c.13480A>T

1 paper

NM_003482.4

p.S4493N

c.13478G>A

1 paper

NM_003482.4

p.I4491_D4492delFs

c.13473_13476del4

1 paper

NM_003482.4

p.A4496fs

c.13486_13487fs

1 paper

NM_003482.4

p.D4492N

c.13474G>A

1 paper

NM_003482.4

p.D4492fs

c.13474_13475fs

1 paper

NM_003482.4

p.G4497V

c.13490G>T

1 paper

NM_003482.4

p.L4498_E4499insGG

c.13492_13496ins6

1 paper

NM_003482.4

p.L4498Q

c.13493T>A

1 paper

NM_003482.4

p.L4498fs

c.13492_13493fs

1 paper

NM_003482.4

p.G4489E

c.13466G>A

1 paper

NM_003482.4

p.G4497_E4499delFs

c.13491_13495del5